Hum. Mol. Genet. -- Table of Contents (4 [2] )

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Contents: Volume 4, Number 2   February 1995   [Index by Author]

       REVIEW

       COMMENTARY

       ARTICLES

       REPORTS

       MUTATION REPORTS

       Author Index

       Instructions to Authors

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REVIEW:

Bob Williamson: REVIEW: The end of an era
Hum. Mol. Genet. 1995 4: 149-151; doi:10.1093/hmg/4.2.149 [PDF] [Request Permissions]

COMMENTARY:

Miles B. Brennan and Ute Hochgeschwender: COMMENTARY: So many needles, so much hay
Hum. Mol. Genet. 1995 4: 153-156; doi:10.1093/hmg/4.2.153 [PDF] [Request Permissions]

ARTICLES:

Shannon E. Beard, Stephen I. Goodman, Kristina Bemelen, and Frank E. Frerman: Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase
Hum. Mol. Genet. 1995 4: 157-161; doi:10.1093/hmg/4.2.157 [Abstract] [PDF] [Request Permissions]

André Larochelle, Josef Vormoor, Tsvee Lapidot, Graham Sher, Tatsuo Furukawa, Qiliang Li, Leonard D. Shultz, Nancy F. Olivieri, George Stamatoyannopoulos, and John E. Dick: Engraftment of immune-deficient mice with primitive hematopoietic cells from ß-thalassemia and sickle cell anemia patients: implications for evaluating human gene therapy protocols
Hum. Mol. Genet. 1995 4: 163-172; doi:10.1093/hmg/4.2.163 [Abstract] [PDF] [Request Permissions]

Vincent Mooser, Francesco P. Mancini, Sabina Bopp, Attila Pethö-Schramm, Rudy Guerra, Eric Boerwinkle, Hans-Joachim Müller, and Helen H. Hobbs: Sequence polymorphisms in the apo(a) gene associated with specific levels of Lp(a) in plasma
Hum. Mol. Genet. 1995 4: 173-181; doi:10.1093/hmg/4.2.173 [Abstract] [PDF] [Request Permissions]

Shinji Kosugi, Cornelis Van Dop, Mitchell E. Geffner, Wolfgang Rabl, Jean-Claude Carel, Jean-Louis Chaussain, Toru Mori, John J. Merendino, Jr, and Andrew Shenker: Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty
Hum. Mol. Genet. 1995 4: 183-188; doi:10.1093/hmg/4.2.183 [Abstract] [PDF] [Request Permissions]

H. Telenius, E. Almqvist, B. Kremer, N. Spence, F. Squitieri, K. Nichol, U. Grandell, E. Starr, C. Benjamin, I. Castaldo, O. Calabrese, M. Anvret, Y.P. Goldberg, and M.R. Hayden: Somatic mosaicism in sperm is associated with intergenerational (CAG)_n changes in Huntington disease
Hum. Mol. Genet. 1995 4: 189-195; doi:10.1093/hmg/4.2.189 [Abstract] [PDF] [Request Permissions]

Lynn E. Pritchard, Yoshihiko Kawaguchi, Peter W. Reed, James B. Copeman, June L. Davies, Anthony H. Barnett, Stephen C. Bain, and John A. Todd: Analysis of the CD3 gene region and type 1 diabetes: application of fluorescence-based technology to linkage disequilibrium mapping
Hum. Mol. Genet. 1995 4: 197-202; doi:10.1093/hmg/4.2.197 [Abstract] [PDF] [Request Permissions]

David C. Rubinsztein, Jayne Leggo, Sandy Goodburn, David E. Barton, and Malcolm A. Ferguson-Smith: Haplotype analysis of the ${Delta}$ 2642 and (CAG)_n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent ‘founder’ HD haplotype
Hum. Mol. Genet. 1995 4: 203-206; doi:10.1093/hmg/4.2.203 [Abstract] [PDF] [Request Permissions]

E. Almqvist, N. Spence, K. Nichol, S.E. Andrew, J. Vesa, L. Peltonen, M. Anvret, J. Goto, I. Kanazawa, Y.P. Goldberg, and M.R. Hayden: Ancestral differences in the distribution of the ${Delta}$ 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease
Hum. Mol. Genet. 1995 4: 207-214; doi:10.1093/hmg/4.2.207 [Abstract] [PDF] [Request Permissions]

R. Kauppinen, S. Mustajoki, H. Pihlaja, L. Peltonen, and P. Mustajoki: Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
Hum. Mol. Genet. 1995 4: 215-222; doi:10.1093/hmg/4.2.215 [Abstract] [PDF] [Request Permissions]

Brent D. Wilson, Michael M. Ollmann, Lana Kang, Markus Stoffel, Graeme I. Bell, and Gregory S. Barsh: Structure and function of ASP, the human homolog of the mouse agouti gene
Hum. Mol. Genet. 1995 4: 223-230; doi:10.1093/hmg/4.2.223 [Abstract] [PDF] [Request Permissions]

A. Risch, D.M.A. Wallace, S. Bathers, and E. Sim: Slow N-acetylation genotype is a susceptibility factor in occupational and smoking related bladder cancer
Hum. Mol. Genet. 1995 4: 231-236; doi:10.1093/hmg/4.2.231 [Abstract] [PDF] [Request Permissions]

Hye-Jung Han, Masakazu Maruyama, Shozo Baba, Jae-Gahb Park, and Yusuke Nakamura: Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)
Hum. Mol. Genet. 1995 4: 237-242; doi:10.1093/hmg/4.2.237 [Abstract] [PDF] [Request Permissions]

Phillppe J. Rocques, Jeremy Clark, Sarah Ball, Jayne Crew, Sandra Gill, Zoe Christodoulou, Rhona H. Borts, Edward J. Louis, Kay E. Davies, and Colin S. Cooper: The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes
Hum. Mol. Genet. 1995 4: 243-249; doi:10.1093/hmg/4.2.243 [Abstract] [PDF] [Request Permissions]

REPORTS:

Carolyn J. Brown, Andrew P. Miller, Laura Carrel, Jim L. Rupert, Kay E. Davies, and Huntington F. Willard: The DXS423E gene in Xp11.21 escapes X chromosome inactivation
Hum. Mol. Genet. 1995 4: 251-255; doi:10.1093/hmg/4.2.251 [Abstract] [PDF] [Request Permissions]

Razla Sultana, David A. Adler, Susanne Edelhoff, Laura Carrel, Kwang ho Lee, Verne C. Chapman, Huntington F. Willard, and Christine M. Disteche: The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation
Hum. Mol. Genet. 1995 4: 257-263; doi:10.1093/hmg/4.2.257 [Abstract] [PDF] [Request Permissions]

Raina Yamamoto, Xu LI, Silke Winter, Uta Francke, and Manfred W. Kilimann: Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic Stiff—Man syndrome, and mapping of its gene (AMPH) to chromosome 7p13–p14
Hum. Mol. Genet. 1995 4: 265-268; doi:10.1093/hmg/4.2.265 [Abstract] [PDF] [Request Permissions]

Lisa S. Smit, Theresa V. Strong, Daniel J. Wilkinson, Milan Macek, Jr, Monique K. Mansoura, Deborah L. Wood, Jeffery L. Cole, Garry R. Cutting, Jonathan A. Cohn, David C. Dawson, and Francis S. Collins: Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity
Hum. Mol. Genet. 1995 4: 269-273; doi:10.1093/hmg/4.2.269 [Abstract] [PDF] [Request Permissions]

Jérôme Lamoril, Pavel Martasek, Jean-Charles Deybach, Vasco Da Silva, Bernard Grandchamp, and Yves Nordmann: A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria
Hum. Mol. Genet. 1995 4: 275-278; doi:10.1093/hmg/4.2.275 [Abstract] [PDF] [Request Permissions]

Benigna von Brederlow, Angelika F. Hahn, Wilma J. Koopman, George C. Ebers, and Dennis E. Bulman: Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p
Hum. Mol. Genet. 1995 4: 279-284; doi:10.1093/hmg/4.2.279 [Abstract] [PDF] [Request Permissions]

Geert R. Mortler, Douglas J. Wilkin, William R. Wllcox, David L. Rimoin, Ralph S. Lachman, David R. Eyre, and Daniel H. Cohn: A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly⁶⁹¹ $->$ Arg) in the type II collagen trimer
Hum. Mol. Genet. 1995 4: 285-288; doi:10.1093/hmg/4.2.285 [Abstract] [PDF] [Request Permissions]

Scott L. Page, William C. Earnshaw, K.H.Andy Choo, and Lisa G. Shaffer: Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X; 15) with simultaneous immunofluorescence and FISH
Hum. Mol. Genet. 1995 4: 289-294; doi:10.1093/hmg/4.2.289 [Abstract] [PDF] [Request Permissions]

Andrew D. Simmons, Sheryl A. Goodart, Teresa D. Gallardo, Joan Overhauser, and Michael Lovett: Five novel genes from the cri-du-chat critical region isolated by direct selection
Hum. Mol. Genet. 1995 4: 295-302; doi:10.1093/hmg/4.2.295 [Abstract] [PDF] [Request Permissions]

Lin Zhang, Kenneth H. Fischbeck, and Norman Arnhelm: CAG repeat length variation in sperm from a patient with Kennedy's disease
Hum. Mol. Genet. 1995 4: 303-305; doi:10.1093/hmg/4.2.303 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Willy Lissens, Isabelle Desguerre, Chantal Benelli, Cécile Marsac, Françoise Fouque, Charles Haenggell, Gérard Ponsot, Sara Seneca, Inge Liebaers, and Linda De Meirleir: Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 ${alpha}$ gene
Hum. Mol. Genet. 1995 4: 307-308; doi:10.1093/hmg/4.2.307 [PDF] [Request Permissions]

Charlene J. Williams, Matthew Rock, Eileen Considine, Seamus McCarron, Peter Gow, Roger Ladda, David McLain, Virginia M. Michels, William Murphy, Darwin J. Prockop, and Arupa Ganguly: Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519 $->$ Cys base substitution using conformation sensitive gel electrophoresis
Hum. Mol. Genet. 1995 4: 309-312; doi:10.1093/hmg/4.2.309 [PDF] [Request Permissions]

Izumi Horikawa, Mikio Suzuki, and Mitsuo Oshimura: An amino-terminally truncated p53 protein expressed in a human choriocarcinoma cell line, CC1
Hum. Mol. Genet. 1995 4: 313-314; doi:10.1093/hmg/4.2.313 [PDF] [Request Permissions]

S.G. Hemalatha, Douglas S. Kerr, Isaiah D. Wexler, Marllyn M. Lusk, Marie Kaung, Yufen Du, Madhu Kolli, Robert L. Schelper, and Mulchand S. Patel: Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E₁ ${alpha}$ subunit
Hum. Mol. Genet. 1995 4: 315-318; doi:10.1093/hmg/4.2.315 [PDF] [Request Permissions]

Maryse St-Louis, Jacques Poudrier, Daniel Phaneuf, Barbara Lecierc, Rachel Laframboise, and Robert M. Tanguay: Two novel mutations involved in hereditary tyrosinemia type I
Hum. Mol. Genet. 1995 4: 319-320; doi:10.1093/hmg/4.2.319 [PDF] [Request Permissions]

Author Index:

: Author index
Hum. Mol. Genet. 1995 4: 321; doi:10.1093/hmg/4.2.321 [PDF] [Request Permissions]

Instructions to Authors:

: Instructions to Authors
Hum. Mol. Genet. 1995 4: 323-324; doi:10.1093/hmg/4.2.323 [PDF] [Request Permissions]

Online ISSN 1460-2083 - Print ISSN 0964-6906

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