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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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Autors principals: Nair, Preethi S., Shetty, Shrimati D., Chandrakala, S., Ghosh, Kanjaksha
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4028251/
https://ncbi.nlm.nih.gov/pubmed/24845853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0097337
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