Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives

American Journal of Medical Genetics

Volumn 82, Issue 4, 1999, Pages 305-311

  Gilchrist, Dawna ^a   Schwarze, Ulrike ^c   Shields, Keith ^b   MacLaren, Linda ^b   Bridge, Peter J ^b   Byers, Peter H ^c  

^a UNIVERSITY OF ALBERTA   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Arterial rupture; Bowel rupture; COL3A1; Ehlers Danlos syndrome type IV; Longevity; Pregnancy; Type III collagen

Indexed keywords

PROCOLLAGEN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTERY RUPTURE; ARTICLE; CHILD; CLINICAL ARTICLE; EHLERS DANLOS SYNDROME; FAMILY STUDY; FEMALE; HUMAN; HUMAN CELL; INTESTINE PERFORATION; LONGEVITY; MALE; MORBIDITY; MORTALITY; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PREGNANCY COMPLICATION; PRIORITY JOURNAL;

EHLERS-DANLOS SYNDROME; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; LIFE EXPECTANCY; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; PROCOLLAGEN; RISK; SEQUENCE ANALYSIS, DNA;

EID: 0033590706     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990212)82:4<305::AID-AJMG6>3.0.CO;2-C     Document Type: Article

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