Detection of C282Y and H63D in the HFE gene.
Genet Test
; 4(2): 115-20, 2000.
Article
en En
| MEDLINE
| ID: mdl-10953949
The gene for hemochromatosis was identified in 1996 and two mutations were found. Homozygosity for one of these, C282Y, is associated with hemochromatosis in a high percentage of patients. Genetic analysis of patient DNA is, therefore, a very useful tool to aid and confirm diagnosis and to screen asymptomatic relatives of patients to identify those at risk of developing this common, easily treated disease.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Antígenos de Histocompatibilidad Clase I
/
Antígenos HLA
/
Proteínas de la Membrana
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Genet Test
Asunto de la revista:
GENETICA
Año:
2000
Tipo del documento:
Article