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Most Factor VIII B Domain Missense Mutations Are Unlikely to Be Causative Mutations for Severe Hemophilia A: Implications for Genotyping

BACKGROUND & OBJECTIVE: The factor VIII (FVIII) B domain shares very little amino acid homology to other known proteins and is not directly necessary for procoagulant activity. Despite this, missense mutations within the B domain have been reported in patients with hemophilia A. Given that the B...

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Bibliographic Details
Main Authors: Ogata, Kyoichi, Selvaraj, Sundar R, Miao, Hongzhi Z, Pipe, Steven W
Format: Artigo
Language:Inglês
Published: 2011
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3111924/
https://ncbi.nlm.nih.gov/pubmed/21645226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1538-7836.2011.04268.x
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