The FSHD2 gene SMCHD1 Is a modifier of disease severity in families affected by FSHD1

American Journal of Human Genetics

Volumn 93, Issue 4, 2013, Pages 744-751

  Sacconi, Sabrina ^a,b   Lemmers, Richard J L F ^c   Balog, Judit ^c   Van Der Vliet, Patrick J ^c   Lahaut, Pauline ^a   Van Nieuwenhuizen, Merlijn P ^c   Straasheijm, Kirsten R ^c   Debipersad, Rashmie D ^c   Vos Versteeg, Marianne ^c   Salviati, Leonardo ^d,e   Casarin, Alberto ^d,e   Pegoraro, Elena ^d   Tawil, Rabi ^f   Bakker, Egbert ^c   Tapscott, Stephen J ^g   Desnuelle, Claude ^a,b   Van Der Maarel, Silvère M ^c  

^a UNIVERSITY HOSPITAL OF NICE   (France)

^b CENTRE DE BIOCHIMIE   (France)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF PADOVA   (Italy)

^e Istituto di Ricerca Pediatrica   (Italy)

^f UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^g Fred Hutchinson Cancer Research Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN DUX4; STRUCTURAL MAINTENANCE OF CHROMOSOMES FLEXIBLE HINGE DOMAIN CONTAINING 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMATIN STRUCTURE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL EXAMINATION; DISEASE SEVERITY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; METHYLATION; MYOTUBE; PATHOPHYSIOLOGY; POLYADENYLATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRANSCRIPTION INITIATION; WEAKNESS;

EID: 84885298881     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.08.004     Document Type: Article

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