Human Molecular Genetics

ARTICLES:

AA Migchielsen, ML Breuer, MS Hershfield, and D Valerio

Full genetic rescue of adenosine deaminase-deficient mice through introduction of the human gene
Hum. Mol. Genet. 1996 5: 1523-1532; doi:10.1093/hmg/5.10.1523 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AJ Gladwin, J Dixon, SK Loftus, S Edwards, JJ Wasmuth, RC Hennekam, and MJ Dixon

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene
Hum. Mol. Genet. 1996 5: 1533-1538; doi:10.1093/hmg/5.10.1533 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Pulkkinen, FJ Smith, H Shimizu, S Murata, H Yaoita, H Hachisuka, T Nishikawa, WH McLean, and J Uitto

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy
Hum. Mol. Genet. 1996 5: 1539-1546; doi:10.1093/hmg/5.10.1539 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W Wuyts, W Van Hul, J Wauters, M Nemtsova, E Reyniers, EV Van Hul, K De Boulle, BB de Vries, J Hendrickx, I Herrygers, P Bossuyt, W Balemans, E Fransen, L Vits, P Coucke, NJ Nowak, TB Shows, L Mallet, AM van den Ouweland, J McGaughran, DJ Halley, and PJ Willems

Positional cloning of a gene involved in hereditary multiple exostoses
Hum. Mol. Genet. 1996 5: 1547-1557; doi:10.1093/hmg/5.10.1547 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CN Tennyson, GY Dally, PN Ray, and RG Worton

Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures
Hum. Mol. Genet. 1996 5: 1559-1566; doi:10.1093/hmg/5.10.1559 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ST Winokur, U Bengtsson, JC Vargas, JJ Wasmuth, MR Altherr, B Weiffenbach, and SJ Jacobsen

The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region [published erratum appears in Hum Mol Genet 1997 Mar;6(3):502]
Hum. Mol. Genet. 1996 5: 1567-1575; doi:10.1093/hmg/5.10.1567 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Iwashita, H Murakami, N Asai, and M Takahashi

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain
Hum. Mol. Genet. 1996 5: 1577-1580; doi:10.1093/hmg/5.10.1577 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W Liu, C Qian, K Comeau, T Brenn, H Furthmayr, and U Francke

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome
Hum. Mol. Genet. 1996 5: 1581-1587; doi:10.1093/hmg/5.10.1581 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SL Bressler, MD Gray, BL Sopher, Q Hu, MG Hearn, DG Pham, MB Dinulos, K Fukuchi, SS Sisodia, MA Miller, CM Disteche, and GM Martin

cDNA cloning and chromosome mapping of the human Fe65 gene: interaction of the conserved cytoplasmic domains of the human beta-amyloid precursor protein and its homologues with the mouse Fe65 protein
Hum. Mol. Genet. 1996 5: 1589-1598; doi:10.1093/hmg/5.10.1589 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HJ Klamut, LO Bosnoyan-Collins, RG Worton, PN Ray, and HL Davis

Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene
Hum. Mol. Genet. 1996 5: 1599-1606; doi:10.1093/hmg/5.10.1599 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SJ Engle, DE Womer, PM Davies, G Boivin, A Sahota, HA Simmonds, PJ Stambrook, and JA Tischfield

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome
Hum. Mol. Genet. 1996 5: 1607-1610; doi:10.1093/hmg/5.10.1607 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Pagani, R Garcia, R Pariyarath, C Stuani, B Gridelli, G Paone, and FE Baralle

Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease
Hum. Mol. Genet. 1996 5: 1611-1617; doi:10.1093/hmg/5.10.1611 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MB Theophilos, DW Cox, and JF Mercer

The toxic milk mouse is a murine model of Wilson disease
Hum. Mol. Genet. 1996 5: 1619-1624; doi:10.1093/hmg/5.10.1619 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

FJ Cameron, RM Hageman, C Cooke-Yarborough, C Kwok, LL Goodwin, DO Sillence, and AH Sinclair

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal
Hum. Mol. Genet. 1996 5: 1625-1630; doi:10.1093/hmg/5.10.1625 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PR Fain, EN Kort, C Yousry, MR James, and M Litt

A high resolution CEPH crossover mapping panel and integrated map of chromosome 11
Hum. Mol. Genet. 1996 5: 1631-1636; doi:10.1093/hmg/5.10.1631 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JL Berge-Lefranc, P Jay, A Massacrier, P Cau, MG Mattei, S Bauer, C Marsollier, P Berta, and M Fontes

Characterization of the human jumonji gene
Hum. Mol. Genet. 1996 5: 1637-1641; doi:10.1093/hmg/5.10.1637 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MM Lanterman, JR Dickinson, and DJ Danner

Functional analysis in Saccharomyces cerevisiae of naturally occurring amino acid substitutions in human dihydrolipoamide dehydrogenase
Hum. Mol. Genet. 1996 5: 1643-1648; doi:10.1093/hmg/5.10.1643 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Allikmets, B Gerrard, A Hutchinson, and M Dean

Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database
Hum. Mol. Genet. 1996 5: 1649-1655; doi:10.1093/hmg/5.10.1649 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Pomponio, V Narasimhan, TR Reynolds, GA Buck, LF Povirk, and B Wolf

Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure
Hum. Mol. Genet. 1996 5: 1657-1661; doi:10.1093/hmg/5.10.1657 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Valverde, E Healy, S Sikkink, F Haldane, AJ Thody, A Carothers, IJ Jackson, and JL Rees

The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma
Hum. Mol. Genet. 1996 5: 1663-1666; doi:10.1093/hmg/5.10.1663 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AM Shearman, TJ Hudson, JM Andresen, X Wu, RL Sohn, F Haluska, DE Housman, and JS Weiss

The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36
Hum. Mol. Genet. 1996 5: 1667-1672; doi:10.1093/hmg/5.10.1667 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Leube, D Rudnicki, T Ratzlaff, KR Kessler, R Benecke, and G Auburger

Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
Hum. Mol. Genet. 1996 5: 1673-1677; doi:10.1093/hmg/5.10.1673 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JD Ohmen, HY Yang, KK Yamamoto, HY Zhao, Y Ma, LG Bentley, Z Huang, S Gerwehr, S Pressman, C McElree, S Targan, JI Rotter, and N Fischel-Ghodsian

Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis
Hum. Mol. Genet. 1996 5: 1679-1683; doi:10.1093/hmg/5.10.1679 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E LeGuern, A Guilbot, M Kessali, N Ravise, J Tassin, T Maisonobe, D Grid, and A Brice

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
Hum. Mol. Genet. 1996 5: 1685-1688; doi:10.1093/hmg/5.10.1685 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Wayne, VM Der Kaloustian, M Schloss, R Polomeno, DA Scott, JF Hejtmancik, VC Sheffield, and RJ Smith

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
Hum. Mol. Genet. 1996 5: 1689-1692; doi:10.1093/hmg/5.10.1689 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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