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Article

Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2001

Timur A A, Gürgey A, Aktuglu G, Kavakli K, Canatan D, Olek K, Caglayan S H

Abstract excerpt

Haemophilia A is an X-linked recessive bleeding disorder caused by heterogeneous mutations in the factor VIII gene. In an attempt to reveal the molecular pathology of Turkish haemophilia A patients, the coding sequence of the gene, excluding a large portion of exon 14, was amplified from genomic DNA and subjected to denaturing gradient gel electrophoresis prior to DNA sequencing. Fifty-nine haemophilia A patients...

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Identifiers

PMID: 11554935
DOI: 10.1046/j.1365-2516.2001.00548.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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