A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.

Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder which causes 2,8-dihydroxy-adenine urolithiasis. The estimated incidence of heterozygosity in Caucasian and Japanese populations is 1%. Mutant alleles responsible for the disease have been classified as APRT*Q0 (type I) and AP...

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Detalhes bibliográficos
Main Authors: Mimori, A, Hidaka, Y, Wu, V C, Tarlé, S A, Kamatani, N, Kelley, W N, Pallela, T D
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682758/
https://ncbi.nlm.nih.gov/pubmed/1985452
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