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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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Autori principali: Nair, Preethi S., Shetty, Shrimati D., Chandrakala, S., Ghosh, Kanjaksha
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Accesso online: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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