Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2090-2093

  Borck, Guntram ^a   Beighton, Peter ^b   Wilhelm, Christian ^c   Kohlhase, Jürgen ^c   Kubisch, Christian ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Arterial rupture; COL5A1; Collagen; Ehlers Danlos syndrome; Medical complication

Indexed keywords

ADULT; ARTERY RUPTURE; ARTICLE; CASE REPORT; COL5A1 GENE; DISEASE ASSOCIATION; EHLERS DANLOS SYNDROME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; ILIAC ARTERY; INGUINAL HERNIA; MALE; MOLECULAR GENETICS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RARE DISEASE; RECURRENT DISEASE; SKIN BRUISING;

ADULT; ARTERIES; CHILD; COLLAGEN TYPE V; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 77955298386     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33541     Document Type: Article

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