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Article

A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.

Pediatric neurology - 1 Aug 2013

Borlot Felippe, Aquino Camila C, Zoratti Sandra R B R, de Araújo Juliana D, Kulikowski Leslie D, Kim Chong A

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Identifiers

PMID: 23859867
DOI: 10.1016/j.pediatrneurol.2013.03.012

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.PMID 23859867Read ↗

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Novel mutation in HPRT1 causing a splicing error with multiple variations.Semantic proximity Read ↗

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Lesch–Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNASemantic proximity Read ↗

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.Semantic proximity Read ↗

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndromeSemantic proximity Read ↗

Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch–Nyhan disease and HPRT1-related gout by in silico mutational analysisSemantic proximity Read ↗

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Semantic proximity Read ↗

Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.Semantic proximity Read ↗

Lesch Nyhan syndrome: a novel complex mutation in a Tunisian child.Semantic proximity Read ↗

The Study on the Clinical Phenotype and Function of HPRT1 GeneSemantic proximity Read ↗

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