Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis

Journal of Internal Medicine

Volumn 249, Issue 1, 2001, Pages 103-108

  Nejima, Jun ^a   Nejima, J ^a   Watanabe, A ^a   Kotani, E ^a   Sakai, N ^a   Hatamochi, A ^b   Shinkai, H ^b   Kiuchi, K ^a   Tamura, K ^a   Shimada, T ^a   Takano, T ^a   Katayama, Y ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Acute myocardial infarction; COL3A1 gene point mutation; Ehlers Danlos syndrome (EDS) type IV; Recurrent pneumothorax; Splenic artery dissection; Tracheal perforation

Indexed keywords

ASPARTIC ACID; COLLAGEN TYPE 3; GLYCINE;

ACUTE HEART INFARCTION; ADULT; ARTERY RUPTURE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORONARY ARTERY OBSTRUCTION; DIAGNOSTIC PROCEDURE; DISEASE COURSE; EHLERS DANLOS SYNDROME; EMPHYSEMA; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALE; PATHOGENESIS; PHENOTYPE; PNEUMOTHORAX; POINT MUTATION; PRIORITY JOURNAL; SPLEEN ARTERY;

ADULT; ANEURYSM; ASPARTIC ACID; COLLAGEN; CORONARY DISEASE; EHLERS-DANLOS SYNDROME; EMPHYSEMA; GLYCINE; HUMANS; MALE; MYOCARDIAL INFARCTION; PHENOTYPE; PNEUMOTHORAX; POINT MUTATION; RECURRENCE; SPLENIC ARTERY; TRACHEAL DISEASES;

EID: 0035130985     PISSN: 09546820     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2796.2001.00761.x     Document Type: Article

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