Identification of a homozygous missense mutation...

Haemophilia 2018 / 09

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

Shigekiyo, Toshio, Udaka, Kengo, Sekimoto, Etsuko, Shibata, Hironobu, Ozaki, Shuji, Higuchi, Yukio, Matsumoto, Masanori
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Language:
english
Journal:
Haemophilia
DOI:
10.1111/hae.13605
Date:
September, 2018
File:
PDF, 425 KB
english, 2018
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