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Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM

BACKGROUND: Hemophilia A represents the most common and severe inherited hemorrhagic disorder. It is caused by mutations in the F8 gene, which leads to a deficiency or dysfunctional factor VIII protein, an essential cofactor in the factor X activation complex. METHODS: We used long-distance polymera...

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Detalles Bibliográficos
Autores principales: Lin, Shin-Yu, Su, Yi-Ning, Hung, Chia-Cheng, Tsay, Woei, Chiou, Shyh-Shin, Chang, Chieh-Ting, Ho, Hong-Nerng, Lee, Chien-Nan
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442058/
https://www.ncbi.nlm.nih.gov/pubmed/18565236
http://dx.doi.org/10.1186/1471-2350-9-53