Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A.
Haematologica
; 90(2): 283-4, 2005 Feb.
Article
em En
| MEDLINE
| ID: mdl-15710596
ABSTRACT
Seventy-five unrelated hemophilia A patients from India were analyzed for factor VIII gene defects. Intron 22 inversion was identified in 22 patients and intron 1 inversion in 2 patients. In the remaining 51 patients without inversions screening the FVIII gene by denaturing high performance liquid chromatography (DHPLC) revealed 42 different mutations in 44 unrelated subjects. These included 14 missense, 7 nonsense, 9 splice site, 8 deletional, 3 insertional mutations and one indel mutation. Of these, 32 were novel gene alterations. The hotspots included intron 22 inversion, CpG and adenine runs.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fator VIII
/
Hemofilia A
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Haematologica
Ano de publicação:
2005
Tipo de documento:
Article