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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 DNA

19 Jun 2012

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PMID: 22766437
DOI: 10.1016/j.ymgme.2012.06.003

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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 DNAPMID 22766437Read ↗

Lesch-Nyhan disease.Semantic proximity Read ↗

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

The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA.Semantic proximity Read ↗

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Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.Semantic 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 ↗

[Variant phenotype of Lesch-Nyhan syndrome].Semantic proximity Read ↗

Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.Semantic proximity Read ↗

Identification of novel mutations in the human HPRT gene.Semantic proximity Read ↗

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.Semantic proximity Read ↗

Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.Semantic proximity Read ↗

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