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Article

Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2011

Massaro J D, Wiezel C E V, Muniz Y C N, Rego E M, de Oliveira L C O, Mendes-Junior C T, Simões A L

Abstract excerpt

Hemophilia A is an X-linked, inherited, bleeding disorder caused by the partial or total inactivity of the coagulation factor VIII (FVIII). Due to difficulties in the direct recognition of the disease-associated mutation in the F8 gene, indirect diagnosis using polymorphic markers located inside or close to the gene is used as an alternative for determining the segregation of the mutant gene within families and...

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PMID: 21649803
DOI: 10.1111/j.1365-2516.2011.02592.x

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