Frameshift mutation in the collagen VI gene causes Ullrich's disease

Annals of Neurology

Volumn 50, Issue 2, 2001, Pages 261-265

  Higuchi, Itsuro ^a   Shiraishi, Tadafumi ^a   Hashiguchi, Teruto ^a   Suehara, Masahito ^a   Niiyama, Takahito ^a   Nakagawa, Masanori ^a   Arimura, Kimiyoshi ^a   Maruyama, Ikuro ^a   Osame, Mitsuhiro ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; GENE PRODUCT;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; FRAMESHIFT MUTATION; GENE DELETION; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; STOP CODON; TURNER SYNDROME;

ADULT; COLLAGEN DISEASES; COLLAGEN TYPE VI; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUSCLES;

EID: 0034899536     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1120     Document Type: Article

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