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Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients

We have studied the molecular basis of factor (F) VII deficiency in 11 unrelated Indian patients. Mutations were identified in all 11 and included 5 missense, 2 nonsense and a frame shift mutation. Five of these were novel. These mutations were considered to be causative of disease because of their...

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Autores principales: Giridhara Rao Jayandharan, Auro Viswabandya, Sukesh C. Nair, Mammen Chandy, Alok Srivastava
Formato: Artigo
Lenguaje:Inglês
Publicado: Ferrata Storti Foundation 2007-07-01
Colección:Haematologica
Acceso en línea:https://haematologica.org/article/view/4496
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