Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. [electronic resource]
- European journal of human genetics : EJHG Jan 2015
- 67-71 p. digital
Publication Type: Journal Article
1476-5438
10.1038/ejhg.2014.58 doi
Adult Amino Acid Sequence Chromosomal Proteins, Non-Histone--chemistry DNA Methylation DNA Mutational Analysis Facies Female Genetic Variation Genotype Humans Male Middle Aged Molecular Sequence Data Muscular Dystrophy, Facioscapulohumeral--diagnosis Mutation Pedigree Phenotype Sequence Alignment Young Adult