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Human Genetics|November 1, 1996
Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French familyA Meyer, A Béchetoille, F Valtot, et al.Human Genetics|November 1, 1996
Molecular genetics of familial hypercholesterolemia in IsraelA Reshef, H Nissen, L Triger, et al.Human Genetics|June 10, 1977
Risk for recombinants in pericentric inversions of the (p11 leads to q21) region of chromosome 18V Vigi, P Maraschio, G Bosi, et al.Human Genetics|July 1, 1996
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The NetherlandsH G de Vries, K Niezen-Koning, J W Kliphuis, et al.Human Genetics|July 1, 1996
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiencyS Yamamoto, H Abe, T Kohgo, et al.Human Genetics|July 1, 1996
Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the geneE T Hahnen, B WirthHuman Genetics|July 1, 1996
Turner syndrome: a study of chromosomal mosaicismR Fernández, J Méndez, E PásaroHuman Genetics|July 1, 1996
Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patientsC Ayuso, M J Trujillo, M Robledo, et al.Human Genetics|July 1, 1996
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene productD Schindelhauer, M Weiss, H Hellebrand, et al.Pageof 959