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Human Mutation|January 1, 1994
Allele frequency data for VNTR locus D17S79: identification of an internal HaeIII polymorphism in the black populationJ S Waye, M Richard, G Carmody, et al.Human Mutation|January 1, 1994
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IVL Nuytinck, A De Paepe, J P Renard, et al.Human Mutation|February 28, 2022
An algorithm for optimal testing in co-segregation analysisRonald W Buie, John Michael O Rañola, Annie T Chen, et al.Human Mutation|May 12, 2018
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancerDaniel R Evans, Srividya Venkitachalam, Leslie Revoredo, et al.Human Mutation|December 24, 2002
eMelanoBase: an online locus-specific variant database for familial melanomaDavid C Y Fung, Elizabeth A Holland, Therese M Becker, et al.Human Mutation|December 24, 2002
Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer diseaseLars Feuk, Jonathan A Prince, Kaj Blennow, et al.Human Mutation|December 24, 2002
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10Barbara Zoll, Lars Petersen, Katrin Lange, et al.Human Mutation|December 24, 2002
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian MalaysO Ainoon, Y H Yu, A L Amir Muhriz, et al.Human Mutation|April 4, 2003
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotypeJean-Christophe Charniot, Cécile Pascal, Christiane Bouchier, et al.Human Mutation|April 4, 2003
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyLaure Thuillier, Hidayeth Rostane, Veronique Droin, et al.Pageof 582