Format

Send to

Choose Destination
J Med Genet. 1999 Dec;36(12):922-3.

Mutational analysis of the HGO gene in Finnish alkaptonuria patients.

Author information

1
Departamento de Inmunología, CIB (CSIC), and Unidad de Patología Molecular, Fundación Jiménez Díaz, Madrid, Spain.

Abstract

Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene (HGO). So far 17 mutations have been characterised in AKU patients of different ethnic origin. We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. The three novel AKU mutations are most likely specific for the Finnish population and have originated recently.

PMID:
10594001
PMCID:
PMC1734273
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for HighWire Icon for PubMed Central
Loading ...
Support Center