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Vascular Ehlers–Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly‐X‐Y) repeat
Author(s) -
Hayashi Shujiro,
Lin Wu,
Hamasaki Yoichiro,
Igawa Ken
Publication year - 2020
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.15558
Subject(s) - sequence (biology) , ehlers–danlos syndrome , mutation , gene , genetics , triple helix , medicine , biology , pathology