Article
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2008
Djambas Khayat C, Salem N, Chouery E, Corbani S, Moix I, Nicolas E, Morris M A, de Moerloose P, Mégarbané A
Abstract excerpt
Haemophilia A (HA) is an X-linked recessive hereditary bleeding disorder affecting one in 5000 men, resulting from mutations in the F8 gene. Our objective was to identify the spectrum of mutations of the F8 gene in Lebanese patients, and to perform genotype/phenotype correlations. A group of 79 HA patients from 55 unrelated families was studied. Patients were screened for intron 22 and intron 1 inversion using...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Factor VIII
- Genetic Counseling
- Genotype
- Hemophilia A
- Humans
- Infant