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Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China

Objective: Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients. Our study was aimed at genetic analysis and prenatal diagnosis of...

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Detalles Bibliográficos
Autores principales: Cao, Dong-Hua, Liu, Xiao-Li, Mu, Kai, Ma, Xiang-Wei, Sun, Jing-Li, Bai, Xiao-Zhong, Lin, Chang-Kun, Jin, Chun-Lian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287022/
https://www.ncbi.nlm.nih.gov/pubmed/25330515
http://dx.doi.org/10.4274/tjh.2013.0275