Detection of Haemophilia A Carriers in North Indian Population
Mr. AwanishNuzhat Husain
Broschiertes Buch

Detection of Haemophilia A Carriers in North Indian Population

Molecular Detection of Haemophilia A Carriers by PCR-RFLP Using Hind III Restriction Endonuclease

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Haemophilia A is a X linked genetic disorder characterized by the deficiency or absence of the Factor VIII protein in blood plasma that is responsible for clotting. Usually the affected son has inherited the mutant gene from his carrier mother but about 30% of cases arise from a spontaneous mutation, and there is no family history of haemophilia A. Carrier detection and pre-natal diagnosis are important aspects of care in haemophilia A and are based on intragenic or extragenic polymorphism in FVIII gene or by detection of causative mutation in potential carriers or in unborn male at risk. The ...