Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes

American Journal of Human Genetics

Volumn 65, Issue 4, 1999, Pages 1007-1020

  Schrijver, I ^a   Liu, W ^a   Brenn, T ^a   Furthmayr, H ^a   Francke, Uta ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; EPIDERMAL GROWTH FACTOR; FIBRILLIN; MESSENGER RNA;

AMINO ACID SUBSTITUTION; ARTICLE; DISULFIDE BOND; ECTOPIA LENTIS; GENE MUTATION; HUMAN; HUMAN TISSUE; MARFAN SYNDROME; MYOPIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROCESSING;

EID: 0033361884     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302582     Document Type: Article

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