A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen

Human Molecular Genetics

Volumn 5, Issue 9, 1996, Pages 1339-1343

  Richards, Allan J ^a,b   Yates, John R W ^a,c   Williams, Rebecca ^a,c   Payne, Stewart J ^c   Pope, F Michael ^a,b,c   Scott, John D ^c   Snead, Martin P ^c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN FIBRIL; COLLAGEN TYPE 11; COLLAGEN TYPE 5; GLYCINE; PROCOLLAGEN; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; GENE LOCUS; GENE MUTATION; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA DETACHMENT; STICKLER SYNDROME;

COLLAGEN; EYE DISEASES; FEMALE; GLYCINE; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; VALINE;

EID: 0029833063     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.9.1339     Document Type: Article

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