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Human Mutation|April 28, 2015
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM GeneGisela Nogales-Gadea, Astrid Brull, Alfredo Santalla, et al.
Human Mutation|April 1, 1998
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestryM M Hermans, M A Kroos, J A Smeitink, et al.
Human Mutation|April 1, 1998
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemiaP Bosco, F Cali, C Meli, et al.
Human Mutation|January 1, 1993
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplexM M Humphries, D M Sheils, G J Farrar, et al.
Human Mutation|April 6, 2021
Prediction of disease-associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and featuresYu Lu, Yiming Wu, Yuan Liu, et al.
Human Mutation|July 29, 2016
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Jacqueline Stella, Insa Buers, Koen van de Wetering, et al.
Human Mutation|June 17, 2015
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSFCsilla H Lazar, Adva Kimchi, Prasanthi Namburi, et al.
Human Mutation|June 23, 2015
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet SyndromeXiaojing Xu, Xiaoxu Yang, Qixi Wu, et al.
Human Mutation|October 26, 2017
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplificationLaia Bassaganyas, George Freedman, Dedeepya Vaka, et al.
Human Mutation|October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndromeAshley P L Marsh, Timothy J Edwards, Charles Galea, et al.
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