Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.
Mol Genet Metab
; 87(4): 376-8, 2006 Apr.
Article
en En
| MEDLINE
| ID: mdl-16406649
ABSTRACT
We studied 28 Polish hereditary fructose intolerant (HFI) patients (26 unrelated) by direct sequencing of the ALDOB coding region/splice sites. Eight different mutations were found including two novel ones (each found in two unrelated individuals) c.250delC (frameshift) and c.522 C > G (p.Y174X). The most frequent mutation c.448 G > C (p.A150P, 67% of chromosomes) was screened for in a group of 1049 randomly selected unrelated individuals. Eight (1131) carriers were found allowing to estimate the HFI prevalence in Poland as 131,000.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Intolerancia a la Fructosa
/
Fructosa-Bifosfato Aldolasa
Tipo de estudio:
Prevalence_studies
/
Risk_factors_studies
Límite:
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Año:
2006
Tipo del documento:
Article
País de afiliación:
Polonia