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Identification of a homozygous missense mutation (p.Cys379Gly) in the D1 domain of von Willebrand factor propeptide in a family with type 2A (IIC) von Willebrand disease
Author(s) -
Shigekiyo Toshio,
Udaka Kengo,
Sekimoto Etsuko,
Shibata Hironobu,
Ozaki Shuji,
Higuchi Yukio,
Matsumoto Masanori
Publication year - 2018
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/hae.13605
Subject(s) - medicine , hematology , von willebrand disease , university hospital , von willebrand factor , platelet