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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...
Autores principales: | Nair, Preethi S., Shetty, Shrimati D., Chandrakala, S., Ghosh, Kanjaksha |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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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 |
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