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Human Mutation|November 26, 1998
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathyF Tesson, P Richard, P Charron, et al.Human Mutation|November 26, 1998
Use of denaturing gradient gel blots to screen for point mutations in the factor VIII geneS L Laprise, E K Mak, K A Killoran, et al.Human Mutation|October 29, 1998
Testing environment for single-gene disorders in U.S. reference laboratoriesJ Amos, B GoldHuman Mutation|October 29, 1998
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric allelesT Popescu, M Blazkova, L Kozak, et al.Human Mutation|October 29, 1998
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch populationA Broeks, A de Klein, A N Floore, et al.Human Mutation|October 29, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)P J Waters, M A Parniak, A S Hewson, et al.Human Mutation|January 1, 1996
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathyF Merante, T Myint, I Tein, et al.Human Mutation|January 1, 1996
Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomesD Hughes, A Wallace, J Taylor, et al.Human Mutation|January 1, 1996
Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutationsD Seto, B D WeintraubHuman Mutation|January 1, 1996
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populationsA Yamagishi, S Tomatsu, S Fukuda, et al.Pageof 583