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Literature DB >> 29405493

A novel missense mutation, p.Phe360Cys, in FIX gene results in haemophilia B in a female patient with skewed X-inactivation.

C Yang^1,2, Z Yu^1,2, W Zhang^1,2, L Cao^1,2, W Ouyang^1,2, F Hu^1,2, P Zhang^1,2, X Bai^1,2, C Ruan^1,2.

Abstract

Entities: Disease Mutation Species

Substances：
Factor IX

Year: 2018 PMID： 29405493 DOI： 10.1111/hae.13423

Source DB: PubMed Journal: Haemophilia ISSN： 1351-8216 Impact factor: 4.287

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Authors: Zhen Li; Guangrui Lai
Journal: Exp Ther Med Date: 2022-07-12 Impact factor: 2.751

1 in total