TY  - GEN
AU  - Winston,Jincy
AU  - Duerden,Laura
AU  - Mort,Matthew
AU  - Frayling,Ian M
AU  - Rogers,Mark T
AU  - Upadhyaya,Meena
TI  - Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy
SN  - 1476-5438
PY  - 2015///0805
KW  - Adult
KW  - Amino Acid Sequence
KW  - Chromosomal Proteins, Non-Histone
KW  - chemistry
KW  - DNA Methylation
KW  - DNA Mutational Analysis
KW  - Facies
KW  - Female
KW  - Genetic Variation
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Muscular Dystrophy, Facioscapulohumeral
KW  - diagnosis
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Sequence Alignment
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1038/ejhg.2014.58
ER  -