A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

Journal of Medical Genetics

Volumn 35, Issue 10, 1998, Pages 846-848

  Richards, Allan J ^a   Martin, Sam ^a   Nicholls, Alan C ^a   Harrison, J Barrie ^a   Pope, F Michael ^a,b   Burrows, Nigel P ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

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

Author keywords

COL5A2; Ehlers Danlos syndrome; Mutation

Indexed keywords

COLLAGEN TYPE 5; GLYCINE;

AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; CONNECTIVE TISSUE DISEASE; EHLERS DANLOS SYNDROME; FIBROBLAST CULTURE; GENE MUTATION; HAPLOTYPE; HUMAN; OPEN READING FRAME; PRIORITY JOURNAL;

EID: 0031691919     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.10.846     Document Type: Article

References (12)

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