Winston, Jincy

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