Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

American Journal of Medical Genetics

Volumn 80, Issue 2, 1998, Pages 115-120

  Pihlajamaa, Tero ^a   Prockop, Darwin J ^b   Faber, Jörg ^c   Winterpacht, Andreas ^c   Zabel, Bernhard ^c   Giedion, Andres ^d   Wiesbauer, Peter ^e   Spranger, Jürgen ^c   Ala Kokko, Leena ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e ST ANNA CHILDREN S HOSPITAL   (Austria)

Author keywords

chondrodysplasia; Collagen; Mutation; OSMED; Stickler syndrome; Weissenbacher Zweym ller syndrome

Indexed keywords

COLLAGEN TYPE 1; GLUTAMIC ACID; GLYCINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHONDRODYSPLASIA; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STICKLER SYNDROME; SYNDROME OSMED;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; COLLAGEN; DNA PRIMERS; GLYCINE; HETEROZYGOTE; HUMANS; SYNDROME;

EID: 0031733006     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

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