Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.

doi:10.1007/BF00195826

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Article

Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.

Human genetics - 1 Apr 1990

Fujimori S, Kamatani N, Nishida Y, Ogasawara N, Akaoka I

Abstract excerpt

A previously undescribed nucleotide substitution at codon 51 (CGA to TGA) has been identified using the polymerase chain reaction technique in hypoxanthine guanine phosphoribosyltransferase (HPRT) cDNA; this is the first molecular evidence for a point mutation in a Japanese patient with Lesch-Nyh...

Topics

Adolescent
Base Sequence
Codon
Humans
Hypoxanthine Phosphoribosyltransferase
Japan
Lesch-Nyhan Syndrome
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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