Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
Genomics
; 58(1): 98-101, 1999 May 15.
Article
en En
| MEDLINE
| ID: mdl-10331951
Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset. Mutations in the Bestrophin gene were shown in patients affected with VMD2. In a mutation study, we made three new and interesting observations. First, we identified possible mutation hotspots within the gene, suggesting that particular regions of the protein have greater functional significance than others. Second, we described a 2-bp deletion in a part of the gene where mutations have not previously been reported; this mutation causes a frameshift and subsequent premature termination of the protein. Finally, we have evidence that some mutations are associated with variable expression of the disease, suggesting the involvement of other factors or genes in the disease phenotype.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas del Ojo
/
Degeneración Macular
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Genomics
Asunto de la revista:
GENETICA
Año:
1999
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos