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American Journal of Human Genetics|June 1, 1996
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsT Litjens, D A Brooks, C Peters, et al.
American Journal of Human Genetics|June 1, 1996
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the proteinM Nissinen, A Helbling-Leclerc, X Zhang, et al.
American Journal of Human Genetics|June 1, 1996
Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversionV Shashi, W L Golden, P S Allinson, et al.
American Journal of Human Genetics|June 1, 1996
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statisticsE Sobel, K Lange
American Journal of Human Genetics|June 1, 1996
Parametric and nonparametric linkage analysis: a unified multipoint approachL Kruglyak, M J Daly, M P Reeve-Daly, et al.
American Journal of Human Genetics|September 1, 1996
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancyP M Thomas, N Wohllk, E Huang, et al.
American Journal of Human Genetics|September 1, 1996
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patientS Kassovska-Bratinova, T Fukao, X Q Song, et al.
American Journal of Human Genetics|September 1, 1996
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalitiesD M Parry, M M MacCollin, M I Kaiser-Kupfer, et al.
American Journal of Human Genetics|September 1, 1996
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)K Fukai, J Oh, M A Karim, et al.
American Journal of Human Genetics|September 1, 1996
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French CanadiansM Labuda, D Labuda, M Korab-Laskowska, et al.
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