Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Human Mutation

Volumn 28, Issue 4, 2007, Pages 387-395

  Malfait, Fransiska ^a   Symoens, Sofie ^a   De Backer, Julie ^a   Hermanns Lê, Trinh ^b   Sakalihasan, Natzi ^b   Lapière, Charles M ^c   Coucke, Paul ^a   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY OF LIÈGE   (Belgium)

^c UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

Aneurysm; COL1A1; COL1A2; Collagen type I; EDS; Ehlers Danlos syndrome

Indexed keywords

ARGININE; COLLAGEN FIBRIL; COLLAGEN TYPE 1; CYSTEINE; DIMER; GLYCINE; MONOMER; N PROTEINASE; PRO ALPHA 1 COLLAGEN; PROCOLLAGEN; PROTEINASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALPHA HELIX; AMINO ACID SEQUENCE; ARTERY DISSECTION; ARTERY RUPTURE; ARTICLE; CALCULATION; CASE REPORT; COL1A1 GENE; COL1A2 GENE; EHLERS DANLOS SYNDROME; FEMORAL ARTERY; GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; ILIAC ARTERY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; OSTEOPENIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DENATURATION; PROTEIN SECRETION; RISK FACTOR; SEQUENCE ANALYSIS; SKIN FIBROBLAST;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARGININE; BASE SEQUENCE; BONE DISEASES, METABOLIC; COLLAGEN; COLLAGEN TYPE I; COLLAGEN TYPE III; CYSTEINE; EHLERS-DANLOS SYNDROME; FEMALE; FEMORAL ARTERY; HUMANS; ILIAC ARTERY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN STRUCTURE, SECONDARY; RNA, MESSENGER; RUPTURE, SPONTANEOUS;

EID: 34047204759     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20455     Document Type: Article

References (34)

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