Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.

doi:10.1002/humu.1380020608

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Article

Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.

Human mutation - 1 Jan 1993

Marcus S, Christensen E, Malm G

Abstract excerpt

We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA. Three of the mutations affect splicing of exons 1, 2, and 9, respectively, while two are missense mutat...

Topics

Adolescent
Adult
Child
Child, Preschool
Exons
Female
Humans
Hypoxanthine Phosphoribosyltransferase
Infant
Lesch-Nyhan Syndrome
Male
Mutation
Phenotype
RNA Splicing

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