Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

Congenital Anomalies

Volumn 52, Issue 4, 2012, Pages 207-210

  Masuno, Mitsuo ^a,b   Watanabe, Atsushi ^c   Naing, Banyar Than ^c   Shimada, Takashi ^c   Fujimoto, Wataru ^a   Ninomiya, Shinsuke ^d   Ueda, Yasunori ^d   Kadota, Kazushige ^d   Kotaka, Tatsuya ^d   Kondo, Eisei ^e   Yamanouchi, Yasuko ^b   Inoue, Mika ^a   Ouchi, Kazunobu ^a   Kuroki, Yoshikazu ^b  

^a KAWASAKI MEDICAL SCHOOL   (Japan)

^b KAWASAKI UNIVERSITY OF MEDICAL WELFARE   (Japan)

^c NIPPON MEDICAL SCHOOL   (Japan)

^d KURASHIKI CENTRAL HOSPITAL   (Japan)

^e OKAYAMA UNIVERSITY HOSPITAL   (Japan)

Author keywords

COL3A1; Ehlers Danlos syndrome; High resolution melting curve analysis; Novel missense mutation; Vascular type

Indexed keywords

COLLAGEN FIBRIL; GENOMIC DNA;

ADULT; ARTICLE; BASILAR ARTERY; CASE REPORT; CLINICAL FEATURE; COL3A1 GENE; EHLERS DANLOS SYNDROME; ELECTRON MICROSCOPY; EXON; FEMALE; FIBROBLAST; GENE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN CELL; MAGNETIC RESONANCE ANGIOGRAPHY; MISSENSE MUTATION; PRIORITY JOURNAL; ROUGH ENDOPLASMIC RETICULUM; SKIN BIOPSY; TIBIAL ARTERY; VERTEBRAL ARTERY;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CEREBRAL ANGIOGRAPHY; COLLAGEN TYPE III; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; HUMANS; MAGNETIC RESONANCE ANGIOGRAPHY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SKIN;

EID: 84870195959     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/j.1741-4520.2011.00353.x     Document Type: Article

References (10)

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