Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. [electronic resource]
Producer: 20150805Description: 67-71 p. digitalISSN:- 1476-5438
- 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
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Publication Type: Journal Article
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