Stickler syndrome: Further mutations in COL11A1 and evidence for additional locus heterogeneity

European Journal of Human Genetics

Volumn 7, Issue 7, 1999, Pages 807-814

  Martin, Sam ^c   Richards, Allan J ^c   Yates, John R W ^c   Scott, John D ^a   Pope, Michael ^b   Snead, Martin P ^a  

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

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c NONE

Author keywords

Collagen; Retinal detachment; Stickler syndrome; Vitreous

Indexed keywords

COLLAGEN TYPE 2;

ARTICLE; CONTROLLED STUDY; DELETION MUTANT; EXON; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HEREDITARY CONNECTIVE TISSUE DISEASE; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RETINA DETACHMENT; STICKLER SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; COLLAGEN; CONNECTIVE TISSUE DISEASES; EAR; EYE DISEASES, HEREDITARY; FACE; HUMANS; JOINTS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUTATION; SYNDROME;

EID: 0032744969     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200377     Document Type: Article

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