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Human Mutation|April 23, 2002
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndromeJeffrey W Innis, Frances R Goodman, Chiara Bacchelli, et al.
Human Mutation|January 1, 1994
Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska Genetic Semen BankM D Traystman, N A Schulte, M MacDonald, et al.
Human Mutation|January 1, 1995
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagenI McIntosh, M H Abbott, C A Francomano
Human Mutation|January 1, 1995
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiencyB Barbat, A Bogyo, M C Raux-Demay, et al.
Human Mutation|January 1, 1997
Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas caseL E Warner, M Shohat, Z Shorer, et al.
Human Mutation|January 1, 1997
The cystic fibrosis delta F508 gene mutation and cancerR A Padua, N Warren, D Grimshaw, et al.
Human Mutation|January 1, 1997
Mutations in the adrenoleukodystrophy geneA Dodd, S A Rowland, S L Hawkes, et al.
Human Mutation|January 1, 1997
NF1 mutation analysis using a combined heteroduplex/SSCP approachC R Abernathy, S A Rasmussen, H J Stalker, et al.
Human Mutation|January 1, 1997
Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studiesL Assouline, E Leitersdorf, M Lambert, et al.
Human Mutation|January 1, 1997
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imagingT Ikegami, H Ikeda, P F Chance, et al.
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