Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?
Kidney Int
; 70(6): 984-6, 2006 Sep.
Article
em En
| MEDLINE
| ID: mdl-16957746
ABSTRACT
There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations. However, other determinants like environmental factors or modifer genes may play a pivotal role in the heterogeneity of the disease. The report of Lorenzo and co-workers highlights this situation, presenting data of a whole population with just one specific AGXT mutation.
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Hiperoxalúria Primária
/
Genótipo
/
Transaminases
Tipo de estudo:
Etiology_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article