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Human Mutation|January 15, 2004
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuriaStuart J Moat, Liming Bao, Brian Fowler, et al.
Human Mutation|April 4, 2003
Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndromeEugenia Borgione, Maurizio Sturnio, Angela Spalletta, et al.
Human Mutation|April 4, 2003
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative matingMustafa Tekin, Türker Duman, Gönül Boğoçlu, et al.
Human Mutation|January 1, 1992
Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatchJ F Bateman, I Moeller, M Hannagan, et al.
Human Mutation|January 1, 1992
Complete mutation detection using unlabeled chemical cleavageJ A Saleeba, S J Ramus, R G Cotton
Human Mutation|July 23, 2003
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening techniqueBethan E Hoskins, Anita Thorn, Peter J Scambler, et al.
Human Mutation|July 23, 2003
Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotypingCheryl A Telmer, Jiyan An, David E Malehorn, et al.
Human Mutation|July 23, 2003
BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central ItalyL Stuppia, P Di Fulvio, G Aceto, et al.
Human Mutation|July 23, 2003
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from AustriaBarbara Günther, Andrea Steiner, Doris Nekahm-Heis, et al.
Human Mutation|January 29, 2003
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiencyZivana Tezak, Paola Prandini, Marco Boscaro, et al.
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