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Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India

Despite increased awareness and diagnostic facilities, 70–80% of the haemophilia A (HA) patients still remain undiagnosed in India. Very little data is available on prevalent mutations in HA from this country. We report fifty mutations in seventy one Indian HA patients, of which twenty were novel. T...

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Detalles Bibliográficos
Autores principales: Nair, Preethi S., Shetty, Shrimati D., Chandrakala, S., Ghosh, Kanjaksha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028251/
https://www.ncbi.nlm.nih.gov/pubmed/24845853
http://dx.doi.org/10.1371/journal.pone.0097337