[Genotype and genetic diagnosis of APRT deficiency].

Article

[Genotype and genetic diagnosis of APRT deficiency].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1992

Hakoda M, Kamatani N

Abstract excerpt

Adenine phosphoribosyltransferase (APRT) deficiency is one of the most common genetic diseases among the Japanese and is transmitted in an autosomal recessive manner. Urolithiasis is a typical symptom of this disease. Molecular analysis of the deficient APRT alleles revealed that 96% of disease-c...

Topics

Adenine Phosphoribosyltransferase
Alleles
Asian People
Chromosome Mapping
Cytodiagnosis
Genes, Recessive
Humans
Japan
Mutation
Polymerase Chain Reaction

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