Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

European Journal of Human Genetics

Volumn 23, Issue 1, 2015, Pages 67-71

  Winston, Jincy ^a   Duerden, Laura ^a   Mort, Matthew ^a   Frayling, Ian M ^a   Rogers, Mark T ^a   Upadhyaya, Meena ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOMES FLEXIBLE HINGE DOMAIN CONTAINING 1 PROTEIN; UNCLASSIFIED DRUG; NONHISTONE PROTEIN; SMCHD1 PROTEIN, HUMAN;

ADULT; ARTICLE; CLINICAL ARTICLE; DNA METHYLATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; IN VITRO STUDY; MALE; MISSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; TANDEM REPEAT; YOUNG ADULT; AMINO ACID SEQUENCE; CHEMISTRY; DNA MUTATIONAL ANALYSIS; FACIES; GENETIC VARIATION; GENETICS; GENOTYPE; MIDDLE AGED; MOLECULAR GENETICS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

ADULT; AMINO ACID SEQUENCE; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 84926992749     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.58     Document Type: Article

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