Hum. Mol. Genet. -- Table of Contents (3 [7] )

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Contents: Volume 3, Number 7   July 1994   [Index by Author]

       ARTICLES

       REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Author Index

       Corrigendum

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ARTICLES:

Judith Pratt Rosslter, Michele Young, Michelle L. Kimberland, Pierre Hutter, Rhett P. Ketterling, Jane Gitschier, Jürgen Horst, Michael A. Morris, Daniel J. Schaid, Phillppe de Moerloose, Steve S. Sommer, Haig H. Kazazian, Jr., and Styllanos E. Antonarakis: Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
Hum. Mol. Genet. 1994 3: 1035-1039; doi:10.1093/hmg/3.7.1035 [Abstract] [PDF] [Request Permissions]

Hans van Bokhoven, José A. J. M. van den Hurk, Liesbeth Bogerd, Christophe Philippe, Simone Gilgenkrantz, Pieter de Jong, Hans-Hilger Ropers, and Frans P. M. Cremers: Cloning and characterization of the human choroideremia gene
Hum. Mol. Genet. 1994 3: 1041-1046; doi:10.1093/hmg/3.7.1041 [Abstract] [PDF] [Request Permissions]

Hans van Bokhoven, Marianne Schwartz, Sten Andréasson, José A. J. M. van den Hurk, Liesbeth Bogerd, Marcelle Jay, Klaus Rüther, B. Jay, Ivar H. Pawlowitzki, Eeva-Marja Sankila, Alan Wright, Hans-Hilger Ropers, Thomas Rosenberg, and Frans P. M. Cremers: Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
Hum. Mol. Genet. 1994 3: 1047-1051; doi:10.1093/hmg/3.7.1047 [Abstract] [PDF] [Request Permissions]

REPORTS:

K. A. Rack, J. Chelly, R. J. Gibbons, S. Rider, D. Benjamin, R. G. Lafrenlère, D. Oscier, R. W. Hendriks, I. W. Craig, H. F. Willard, A. P. Monaco, and V. J. Buckle: Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia
Hum. Mol. Genet. 1994 3: 1053-1059; doi:10.1093/hmg/3.7.1053 [Abstract] [PDF] [Request Permissions]

C. Tribioli, M. Mancini, E. Plassart, S. Bione, S. Rivella, C. Sala, G. Torri, and D. Tonlolo: Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae
Hum. Mol. Genet. 1994 3: 1061-1067; doi:10.1093/hmg/3.7.1061 [Abstract] [PDF] [Request Permissions]

M. Tassabehjl, V. E. Newton, K. Leverton, K. Turnbull, E. Seemanova, J. Kunze, K. Sperling, T. Strachan, and A. P. Read: PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse
Hum. Mol. Genet. 1994 3: 1069-1074; doi:10.1093/hmg/3.7.1069 [Abstract] [PDF] [Request Permissions]

Duong P. Huynh, Tamilla Nechiporuk, and Stefan-M. Pulst: Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains
Hum. Mol. Genet. 1994 3: 1075-1079; doi:10.1093/hmg/3.7.1075 [Abstract] [PDF] [Request Permissions]

M. L. Huie, A. S. Chen, S.Sklower Brooks, A. Grix, and R. Hlrschhorn: A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
Hum. Mol. Genet. 1994 3: 1081-1087; doi:10.1093/hmg/3.7.1081 [Abstract] [PDF] [Request Permissions]

Erick Denamur and Farid F. Chehab: Analysis of the mouse and rat CFTR promoter regions
Hum. Mol. Genet. 1994 3: 1089-1094; doi:10.1093/hmg/3.7.1089 [Abstract] [PDF] [Request Permissions]

Richard Mazzarella and Anand K. Srivastava: Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome
Hum. Mol. Genet. 1994 3: 1095-1101; doi:10.1093/hmg/3.7.1095 [Abstract] [PDF] [Request Permissions]

Raffaella de Franchis, Viktor Kozich, Roderick R. Mcinnes, and Jan P. Kraus: Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine ß-synthase using an improved bacterial expression system
Hum. Mol. Genet. 1994 3: 1103-1108; doi:10.1093/hmg/3.7.1103 [Abstract] [PDF] [Request Permissions]

Smita M. Purandare, W. George Lanyon, and J. Michael Connor: Characterisation of inherited and sporadic mutations in neurofibromatosis type-1
Hum. Mol. Genet. 1994 3: 1109-1115; doi:10.1093/hmg/3.7.1109 [Abstract] [PDF] [Request Permissions]

Paolo V. Pedone, Roberto Tirabosco, Andrea O. Cavazzana, Paola Ungaro, Giuseppe Basso, Roberto Luksch, Modesto Carli, Carmelo B. Bruni, Rodolfo Frunzio, and Andrea Riccio: Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors
Hum. Mol. Genet. 1994 3: 1117-1121; doi:10.1093/hmg/3.7.1117 [Abstract] [PDF] [Request Permissions]

Ronald Heine, Alfred L. George, Jr, Ursula Pika, Feza Deymeer, Reinhardt Rüdel, and Frank Lehmann-Horn: Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion
Hum. Mol. Genet. 1994 3: 1123-1128; doi:10.1093/hmg/3.7.1123 [Abstract] [PDF] [Request Permissions]

Andrea Novelletto, Francesca Persichetti, Guglielmo Sabbadini, Paola Mandich, Emilia Bellone, Franco Ajmar, F. Squitieri, G. Campanella, Angela Bozza, Marcy E. MacDonald, James F. Gusella, and Marina Frontali: Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease
Hum. Mol. Genet. 1994 3: 1129-1132; doi:10.1093/hmg/3.7.1129 [Abstract] [PDF] [Request Permissions]

Ronald G. Lafrenière, Laura Carrel, and Huntington F. Willard: A novel transmembrane transporter encoded by the XPCT gene in Xq13.2
Hum. Mol. Genet. 1994 3: 1133-1139; doi:10.1093/hmg/3.7.1133 [Abstract] [PDF] [Request Permissions]

Jeremy Hull, Sue Shackleton, and Ann Harris: Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells
Hum. Mol. Genet. 1994 3: 1141-1146; doi:10.1093/hmg/3.7.1141 [Abstract] [PDF] [Request Permissions]

Shigaku Ikeda, Elizabeth A. Welsh, Anna M. Peluso, Wendy Leyden, Madeleine Duvic, David T. Woodley, and Ervin H. Epstein, Jr: Localization of the gene whose mutations underlie Hailey—Hailey disease to chromosome 3q
Hum. Mol. Genet. 1994 3: 1147-1150; doi:10.1093/hmg/3.7.1147 [Abstract] [PDF] [Request Permissions]

Irene Huber, Maria Bitner-Gllndzicz, Yvette J.M. de Kok, Silvère M. van der Maarel, Yumiko Ishikawa-Brush, Anthony P. Monaco, David Robinson, Susan Malcolm, Marcus E. Pembrey, Han G. Brunner, Frans P.M. Cremers, and Hans-Hilger Ropers: X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions
Hum. Mol. Genet. 1994 3: 1151-1154; doi:10.1093/hmg/3.7.1151 [Abstract] [PDF] [Request Permissions]

Martin C. Wapenaar, M.Vittoria Schiaffino, Maria T. Bassi, Laura Schaefer, A.Craig Chinault, Huda Y. Zoghbi, and Andrea Ballabio: A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22
Hum. Mol. Genet. 1994 3: 1155-1161; doi:10.1093/hmg/3.7.1155 [Abstract] [PDF] [Request Permissions]

Olaf Hiort, Andrea Wodtke, Dagmar Struve, Anke Zöllner, Gernot H.G. Sinnecker, and the German ‘Collaborative Intersex Study Group’: Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis
Hum. Mol. Genet. 1994 3: 1163-1166; doi:10.1093/hmg/3.7.1163 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Johannes F. Gebert, Matthias Hahn, Martina Kadmon, Christian Herfarth, and Hans K. Schackert: Identification of a novel germline mutation in a FAP family
Hum. Mol. Genet. 1994 3: 1167-1168; doi:10.1093/hmg/3.7.1167 [PDF] [Request Permissions]

L. Baldazzl, C. Baronclnl, P. PIrazzoll, A. Balsamo, M. Capelll, G. Marchettl, F. Bernardl, and E. Cacclarl: Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys $->$ Phe substitution in the second zinc finger of the androgen receptor
Hum. Mol. Genet. 1994 3: 1169-1170; doi:10.1093/hmg/3.7.1169 [PDF] [Request Permissions]

Kiyofumi Yamanishi, Masato Matsukl, Kelsuke Konishi, and Hirokazu Yasuno: A novel mutation of Leu¹²² to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplex
Hum. Mol. Genet. 1994 3: 1171-1172; doi:10.1093/hmg/3.7.1171 [PDF] [Request Permissions]

Thomas W.Prior, Claire Bartolo, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra, Arthur H.M. Burghes, and Jerry R. Mendell: Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
Hum. Mol. Genet. 1994 3: 1173-1174; doi:10.1093/hmg/3.7.1173 [PDF] [Request Permissions]

F. Bernardi, G. Castaman, R. Redaelll, M. Pinotti, B. Lunghl, F. Rodeghlero, and G. Marchetti: Topologically equivalent mutations causing dysfunctional coagulation factors VII (²⁹⁴Ala $->$ Val) and X (³³⁴Ser $->$ Pro)
Hum. Mol. Genet. 1994 3: 1175-1177; doi:10.1093/hmg/3.7.1175 [PDF] [Request Permissions]

Peter Ainsworth, David Rodenhiser, Alan Stuart, and Jack Jung: Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene
Hum. Mol. Genet. 1994 3: 1179-1181; doi:10.1093/hmg/3.7.1179 [PDF] [Request Permissions]

Atsushi Uchiyama, Shunji Tomatsu, Naomi Kondo, Yasuyuki Suzuki, Nobuyukl Shlmozawa, Seijl Fukuda, Kazuko Sukegawa, Norio Taki, Hldeki Inamorl, and Tadao Orii: New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P
Hum. Mol. Genet. 1994 3: 1183-1184; doi:10.1093/hmg/3.7.1183 [PDF] [Request Permissions]

Véronique Blanquet, Marie Sylvie Gross, Catherine Turieau, Catherine Sénamaud-Beaufort, Francols Doz, and Claude Besmond: Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene
Hum. Mol. Genet. 1994 3: 1185-1186; doi:10.1093/hmg/3.7.1185 [PDF] [Request Permissions]

Toshihiro Tajima, Jun Nakae, Nozomi Shinohara, and Kenji Fujieda: A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis
Hum. Mol. Genet. 1994 3: 1187-1189; doi:10.1093/hmg/3.7.1187 [PDF] [Request Permissions]

Takeshi Kishida, Masahiro Yao, Fan Chen, Mary Lou Orcutt, Michael I. Lerman, and Berton Zbar: A novel donor splice site mutation associated with two mRNAs in von Hippel — Lindau disease
Hum. Mol. Genet. 1994 3: 1191-1192; doi:10.1093/hmg/3.7.1191 [PDF] [Request Permissions]

Etsuo Naito, Michinori Ito, Ichiro Yokota, Junko Matsuda, Asao Yara, and YasuhIro Kuroda: Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E, ${alpha}$ subunit gene
Hum. Mol. Genet. 1994 3: 1193-1194; doi:10.1093/hmg/3.7.1193 [PDF] [Request Permissions]

Mitsuru Nakazawa, Emi Kikawa, Yasushi Chida, and Makoto Tamai: Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration
Hum. Mol. Genet. 1994 3: 1195-1196; doi:10.1093/hmg/3.7.1195 [PDF] [Request Permissions]

Masashi Aoki, Koji Abe, Takeshi Kameya, Mitsunori Watanabe, and Yasuto Itoyama: Maternal anticipation of DRPLA
Hum. Mol. Genet. 1994 3: 1197-1198; doi:10.1093/hmg/3.7.1197 [PDF] [Request Permissions]

Caroline J. Hermans, Henk J. Veeze, Valentijn R. Drexhage, Dicky J.J. Halley, and Ans M.W.van den Ouweland: Identification of the L927P and ${Delta}$ L1260 mutations in the CFTR gene
Hum. Mol. Genet. 1994 3: 1199-1200; doi:10.1093/hmg/3.7.1199 [PDF] [Request Permissions]

Daniel F.Schorderet, Graziano Pescia, Andrea Bernasconi, and Franco Regli: An additional family with Startle disease and a G1192A mutation at the ${alpha}$ 1 subunit of the inhibitory glycine receptor gene
Hum. Mol. Genet. 1994 3: 1201; doi:10.1093/hmg/3.7.1201 [PDF] [Request Permissions]

S. Fuchs, H. Kranich, M.J. Denton, E. Zrenner, S.S. Bhattacharya, P. Humphries, and A. Gal: Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa
Hum. Mol. Genet. 1994 3: 1203; doi:10.1093/hmg/3.7.1203 [PDF] [Request Permissions]

José Manuel Soria, Jordi Fontcuberta, Montserrat Borrell, Xavuer Estivill, and Núria Sala: Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency
Hum. Mol. Genet. 1994 3: 1205-1206; doi:10.1093/hmg/3.7.1205 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

K.M. Carison, S. Dou, K. Toshima, D.D. Chi, and H. Donis-Keller: Three dinucleotide repeat polymorphisms closely linked to the RET protooncogene D10S1098, D10S1099 and D10S1100
Hum. Mol. Genet. 1994 3: 1207; doi:10.1093/hmg/3.7.1207 [PDF] [Request Permissions]

S. Tomatsu, S. Fukuda, H. Iwata, T. Ogawa, K. Sukegawa, and T. Orii: Polymorphism in the GALNS gene
Hum. Mol. Genet. 1994 3: 1208; doi:10.1093/hmg/3.7.1208 [PDF] [Request Permissions]

S. Tomatsu, S. Fukuda, H. Iwata, T. Ogawa, K. Sukegawa, and T. Orii: Xhol and Sphl RFLPs in the GALNS gene
Hum. Mol. Genet. 1994 3: 1208; doi:10.1093/hmg/3.7.1208-a [PDF] [Request Permissions]

L. Nelson, J. Lu, M. Petterson, K. Fillmore, R. Riley, and K. Ward: Tetranucleotide repeat polymorphism at the D8S639 locus
Hum. Mol. Genet. 1994 3: 1209; doi:10.1093/hmg/3.7.1209 [PDF] [Request Permissions]

C.N. Yandava, V. Meyers, H. Watkins, and G. Duyk: A trinucleotide repeat polymorphism in XT00444 (D13S635E)
Hum. Mol. Genet. 1994 3: 1209; doi:10.1093/hmg/3.7.1209-a [PDF] [Request Permissions]

G. Gandon, V. Lelaure, L. Pichon, A.M. Jouanolle, J.Y.Le Gall, and V. David: Dinucleotide repeat polymorphism at the D6S510 locus
Hum. Mol. Genet. 1994 3: 1210; doi:10.1093/hmg/3.7.1210 [PDF] [Request Permissions]

E. Schipani, F.G. Hustmyer, C. Bergwitz, and H. Juppner: Polymorphism in exon M7 of the PTHR gene
Hum. Mol. Genet. 1994 3: 1210; doi:10.1093/hmg/3.7.1210-a [PDF] [Request Permissions]

M.D. Weston, D.-K. Zhen, J. Sumegi, and W.J. Kimberling: Dinucleotide repeat polymorphism in the TGFB2 gene
Hum. Mol. Genet. 1994 3: 1211; doi:10.1093/hmg/3.7.1211 [PDF] [Request Permissions]

M.D. Weston, D.-K. Zhen, J. Sumegi, and W.J. Kimberling: Dinucleotide repeat polymorphism at D1S556
Hum. Mol. Genet. 1994 3: 1211; doi:10.1093/hmg/3.7.1211-a [PDF] [Request Permissions]

M.D. Weston and W.J. Kimberling: Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41
Hum. Mol. Genet. 1994 3: 1212; doi:10.1093/hmg/3.7.1212 [PDF] [Request Permissions]

Author Index:

: Author index
Hum. Mol. Genet. 1994 3: 1213; doi:10.1093/hmg/3.7.1213 [PDF] [Request Permissions]

Corrigendum:

C. Hassett, L. Aicher, J. S. Sidhu, and C. J. Omiecinski: CORRIGENDUM: Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants
Hum. Mol. Genet. 1994 3: 1214; doi:10.1093/hmg/3.7.1214 [Abstract] [PDF] [Request Permissions]