Glycine to tryptophan substitution in type I collagen in a patient with OI type III: A unique collagen mutation

Journal of Medical Genetics

Volumn 37, Issue 5, 2000, Pages 371-375

  Nuytinck, Lieve ^a   Tükel, Turgut ^b   Kayserili, Hülya ^b   Apak, Memnune Yüksel ^b   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

COL1A2; Collagen; Osteogenesis imperfecta; Tryprophan

Indexed keywords

COLLAGEN TYPE 1; GLYCINE; GUANOSINE; MUTANT PROTEIN; THYMINE; TRYPTOPHAN;

ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE SEVERITY; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SKIN FIBROBLAST;

EID: 1642618104     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.5.371     Document Type: Article

References (17)

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