Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

doi:10.1016/0888-7543(91)90341-b

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Article

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

Genomics - 1 Jun 1991

Tarlé S A, Davidson B L, Wu V C, Zidar F J, Seegmiller J E, Kelley W N, Palella T D

Abstract excerpt

Hypoxanthine--guanine phosphoribosyltransferase (HPRT) is a purine salvage enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. Previous studies of mutant HPRT proteins analyzed at the molecular level have shown a significant hetero...

Topics

Cell Line
DNA Mutational Analysis
Humans
Hypoxanthine Phosphoribosyltransferase
Lesch-Nyhan Syndrome
Mutation
Polymerase Chain Reaction

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