The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations.
The aim of this study was to analyze the mutation pattern causing hemophilia A in a population from Southern Spain. Mutation analysis identified the mutation in 99 of the 109 unrelated patients enrolled in the Hemophilia Registry from Andalusia. About 54% of non-inversion mutations identified were previously unreported.
Fernández-López
Olga
O
García-Lozano
José-Raúl
JR
Núñez-Vázquez
Ramiro
R
Pérez-Garrido
Rosario
R
Núñez-Roldán
Antonio
A
D019943:Amino Acid Substitution; D007446:Chromosome Inversion; D041321:Chromosomes, Human, X / Q000235:genetics*; D018899:CpG Islands / Q000235:genetics; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D013030:Spain / Q000453:epidemiology
D005169:Factor VIII