Hum. Mol. Genet. -- Table of Contents (3 [5] )

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Contents: Volume 3, Number 5   May 1994   [Index by Author]

       ARTICLES

       REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       NEW HUMAN DNA POLYMORPHISMS

       Author index

       Corrigendum

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ARTICLES:

Zoia Larin, Mark D. Fricker, and Chris Tyler-Smith: De novo formation of several features of a centromere following introduction of a Y alphoid YAC into mammalian cells
Hum. Mol. Genet. 1994 3: 689-695; doi:10.1093/hmg/3.5.689 [Abstract] [PDF] [Request Permissions]

Thomas Haaf and David C. Ward: Structural analysis of ${alpha}$ -satellite DNA and centromere proteins using extended chromatin and chromosomes
Hum. Mol. Genet. 1994 3: 697-709; doi:10.1093/hmg/3.5.697 [Abstract] [PDF] [Request Permissions]

Mark R. Albertella and R. Duncan Campbe: Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins: REPORTS
Hum. Mol. Genet. 1994 3: 793-799; doi:10.1093/hmg/3.5.793 [Abstract] [PDF] [Request Permissions]

REPORTS:

C. Gaff, D. du Sart, P. KalltsIs, R. lannello, A. Nagy, and K.H.A. Choo: A novel nuclear protein binds centromeric alpha satellite DNA
Hum. Mol. Genet. 1994 3: 711-716; doi:10.1093/hmg/3.5.711 [Abstract] [PDF] [Request Permissions]

Marline Le Merrer, Laurence Legeai-Mallet, Patricia Margaritte Jeannin, Bernhard Horsthemke, Albert Schlnzel, Henri Plauchu, Annick Toutaln, Frédéric Achard, Arnold Munnich, and Pierre Maroteaux: A gene for hereditary multiple exostoses maps to chromosome 19p
Hum. Mol. Genet. 1994 3: 717-722; doi:10.1093/hmg/3.5.717 [Abstract] [PDF] [Request Permissions]

Andrew A. Farmer, Thomas M. Loftus, Alea A. Mills, Kevin Y. Sato, John D. Neill, Thierry Tron, Meijia Yang, Bernard L. Trumpower, and Eric J. Stanbridge: Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor
Hum. Mol. Genet. 1994 3: 723-728; doi:10.1093/hmg/3.5.723 [Abstract] [PDF] [Request Permissions]

David W. Heln, Ronald J. Ferguson, Mark A. Doll, Timothy D. Rustan, and Kevin Gray: Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes
Hum. Mol. Genet. 1994 3: 729-734; doi:10.1093/hmg/3.5.729 [Abstract] [PDF] [Request Permissions]

Maurizlo D'Esposito, Giuseppe Pilia, and David Schlessinger: BLOCK-based PCR markers to find gene family members in human and comparative genome analysis
Hum. Mol. Genet. 1994 3: 735-740; doi:10.1093/hmg/3.5.735 [Abstract] [PDF] [Request Permissions]

Stephen G.Young, Bernard Bihaln, Laura M. Flynn, David A. Sanan, Marise Ayrault-Jarrier, and Bernard Jacotot: Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2
Hum. Mol. Genet. 1994 3: 741-744; doi:10.1093/hmg/3.5.741 [Abstract] [PDF] [Request Permissions]

B. de Leeuw, M. Balemans, D.Olde Weghuis, R. Seruca, M. Janz, M.T. Geraghty, S. Gilgenkrantz, H.H. Ropers, and A.Geurts van Kessel: Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint
Hum. Mol. Genet. 1994 3: 745-749; doi:10.1093/hmg/3.5.745 [Abstract] [PDF] [Request Permissions]

M. Bessler, P. Hillmen, L. Longo, L. Luzzatto, and P.J. Mason: Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21
Hum. Mol. Genet. 1994 3: 751-757; doi:10.1093/hmg/3.5.751 [Abstract] [PDF] [Request Permissions]

Dean Nizetic, Lisa Gellen, Renata M. J. Hamvas, Richard Mott, Andrei Grigorlev, Radost Vatcheva, Günther Zehetner, Marie-Laure Yaspo, Annie Dutriaux, Carmela Lopes, Jean-M. Delabar, Christine Van Broeckhoven, Marie-Claude Potler, and Hans Lehrach: An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21
Hum. Mol. Genet. 1994 3: 759-770; doi:10.1093/hmg/3.5.759 [Abstract] [PDF] [Request Permissions]

K. Kvaløy, F. Galvagni, and W.R.A. Brown: The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes
Hum. Mol. Genet. 1994 3: 771-778; doi:10.1093/hmg/3.5.771 [Abstract] [PDF] [Request Permissions]

A.N. Stafford, S.H. Rider, J.M. Hopkin, W.O. Cookson, and A.P. Monaco: A 2.8 Mb YAC contig in 11q12 – q13 localizes candidate genes for atopy: Fc ${varepsilon}$ RIß and CD20
Hum. Mol. Genet. 1994 3: 779-785; doi:10.1093/hmg/3.5.779 [Abstract] [PDF] [Request Permissions]

Clalr A. Francomano, Rosa I. Ortiz de Luna, Timothy W. Hefferon, Gary A. Bellus, Caria E. Turner, Eugene Taylor, Deborah A. Meyers, Susan Halloran Blanton, Jeffrey C. Murray, lain Mclntosh, and Jacqueline T. Hecht: Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p
Hum. Mol. Genet. 1994 3: 787-792; doi:10.1093/hmg/3.5.787 [Abstract] [PDF] [Request Permissions]

Metka Ravnlk-Glavac, Damjan Glavac, and Michael Dean: Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
Hum. Mol. Genet. 1994 3: 801-807; doi:10.1093/hmg/3.5.801 [Abstract] [PDF] [Request Permissions]

Charles S.Mgone, W.George Lanyon, Michael R.Moore, Gordon V. Louie, and James M. Connor: Identification of five novel mutations in the porphobilinogen deaminase gene
Hum. Mol. Genet. 1994 3: 809-811; doi:10.1093/hmg/3.5.809 [Abstract] [PDF] [Request Permissions]

David Bourn, Simon A. Carter, Susan Mason, D.Gareth R. Evans, and Tom Strachan: Germline mutations in the neurofibromatosis type 2 tumour suppressor gene
Hum. Mol. Genet. 1994 3: 813-816; doi:10.1093/hmg/3.5.813 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Amrik Sahota, Ju Chen, Simeon A. Boyadjiev, M.Henry Gault, and Jay A. Tischfield: Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis
Hum. Mol. Genet. 1994 3: 817-818; doi:10.1093/hmg/3.5.817 [PDF] [Request Permissions]

Hidehisa Yamagata, Tetsuro Miki, Shun-lchi Sakoda, Naoki Yamanaka, June Davies, Peggy Shelbourne, Ryuji Kubota, Satoshl Takenaga, Masanori Nakagawa, Toshlo Ogihara, and Keith Johnson: Detection of a premutation in Japanese myotonic dystrophy
Hum. Mol. Genet. 1994 3: 819-820; doi:10.1093/hmg/3.5.819 [PDF] [Request Permissions]

Francis Y.M. Choy, Chao Wei, Derek A. Applegarth, and Siu-Li Yong: A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient
Hum. Mol. Genet. 1994 3: 821-823; doi:10.1093/hmg/3.5.821 [PDF] [Request Permissions]

Masato Maekawa, Kayoko Sudo, Takashi Kanno, Susumu Takayasu, Steven S. -L.Li, Masato Kltajima, and Yukio Matsuura: A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency
Hum. Mol. Genet. 1994 3: 825-826; doi:10.1093/hmg/3.5.825 [PDF] [Request Permissions]

N.J. Lench, A.H. Brook, and G.B. Winter: SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1)
Hum. Mol. Genet. 1994 3: 827-828; doi:10.1093/hmg/3.5.827 [PDF] [Request Permissions]

Eric Legius, Bryan K. Hall, Margareth R. Wallace, Francis S. Collins, and Thomas W. Glover: Ten base pair duplication in exon 38 of the NF1 gene
Hum. Mol. Genet. 1994 3: 829-830; doi:10.1093/hmg/3.5.829 [PDF] [Request Permissions]

Brigitte Gilbert-Dussardier, Daniel Rabier, Sandra StrautnIeks, Bertrand Segues, Jean Paul Bonnefont, and Arnold Munnlch: A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern
Hum. Mol. Genet. 1994 3: 831-832; doi:10.1093/hmg/3.5.831 [PDF] [Request Permissions]

Ana Rovlra, Thomas J. Vulliamy, Assumpció Pujades, Lucio Luzzatto, and Joan-Luis Vives Corrons: The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg $->$ Cys) has a worldwide distribution possibly due to recurrent mutation
Hum. Mol. Genet. 1994 3: 833-835; doi:10.1093/hmg/3.5.833 [PDF] [Request Permissions]

H. Li, LSchmidt, M.-H. Wei, T. Hustad, M.I. Lerman, B. Zbar, and K. Tory: Fourteen new polymorphic dinucleotide repeats on human chromosome 3: D3S1432, D3S1433, D3S1434, D3S1483, D3S1484, D3S1485, D3S1486, D3S1487, D3S1488, D3S1489, D3S1490, D3S1496, D3S1497 and D3S1498
Hum. Mol. Genet. 1994 3: 837; doi:10.1093/hmg/3.5.837 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

E. Davies, A. Bonnardeaux, G.M. Lathrop, P. Corvol, E. Clauser, and F. Soubrier: Angiotensin II (type-1) receptor locus: CA repeat polymorphism and genetic mapping
Hum. Mol. Genet. 1994 3: 838; doi:10.1093/hmg/3.5.838 [PDF] [Request Permissions]

I. Vorechovsky, R. Kurzbauer, Z. Kozmfk, LHammarstrfim, C.I.E. Smith, and M. Busslinger: SSCP/SacI polymorphism in the PAX5 gene
Hum. Mol. Genet. 1994 3: 839; doi:10.1093/hmg/3.5.839 [PDF] [Request Permissions]

J. Lu, R. Riley, K. Fillmore, and K. Ward: Tetranucleotide repeat polymorphism at the D8S640 locus
Hum. Mol. Genet. 1994 3: 839; doi:10.1093/hmg/3.5.839-a [PDF] [Request Permissions]

S.M. Klauck, K. Yamakawa, and B.R. Seizinger: Dinucleotide repeat polymorphism at the D3S666 locus
Hum. Mol. Genet. 1994 3: 840; doi:10.1093/hmg/3.5.840 [PDF] [Request Permissions]

S.M. Klauck, E. Whisenant, M. Wood, H.A. Drabkin, and B.R. Seizinger: Dinucleotide repeat polymorphism at the D3S1255 locus
Hum. Mol. Genet. 1994 3: 840; doi:10.1093/hmg/3.5.840-a [PDF] [Request Permissions]

S. Todd, S.L. Naylor, H.A. Drabkin, and .M. Gemmil: Dinucleotide repeat polymorphism (D3S1776) on human chromosome 3p
Hum. Mol. Genet. 1994 3: 841; doi:10.1093/hmg/3.5.841 [PDF] [Request Permissions]

T.S. Khurana, E.C. Engle, R.R. Bennett, G.A. Silverman, S. Seling, G.A.P. Bruns, and L.M. Kunkel: (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein
Hum. Mol. Genet. 1994 3: 841; doi:10.1093/hmg/3.5.841-a [PDF] [Request Permissions]

M. Telatar, P. Concannon, and A. Tolun: Dinucleotide repeat polymorphism at the NCAM locus
Hum. Mol. Genet. 1994 3: 842; doi:10.1093/hmg/3.5.842 [PDF] [Request Permissions]

D.L. Borwne and M. Litt: Dinucleotide repeat polymorphisms near the KCNA6 and KCNAI loci
Hum. Mol. Genet. 1994 3: 842; doi:10.1093/hmg/3.5.842-a [PDF] [Request Permissions]

NEW HUMAN DNA POLYMORPHISMS:

: New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1994 3: 843-849; doi:10.1093/hmg/3.5.843 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1994 3: 851; doi:10.1093/hmg/3.5.851 [PDF] [Request Permissions]

Corrigendum:

: CORRIGENDUM
Hum. Mol. Genet. 1994 3: 852; doi:10.1093/hmg/3.5.852 [PDF] [Request Permissions]

Online ISSN 1460-2083 - Print ISSN 0964-6906

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