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Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

✍ Scribed by Akio Tanaka; Fanny Morice-Picard; Didier Lacombe; Nikoletta Nagy; Michihiro Hide; Alain Taïeb; John McGrath

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
109 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Identification of a novel C16orf57 mutat
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia
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Type 2A is a qualitative variant of von Willebrand disease (vWD) characterized by a reduced platelet-dependent function, associated with an absence of large multimers. A G5135A transition, resulting in a glycine to arginine substitution at the codon 1629 of the von Willebrand factor, was identified