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Article

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

1 Jan 1993

Abstract excerpt

A candidate gene, OCRL-1, for the oculocerebrorenal syndrome of Lowe (OCRL) has been identified via positional cloning strategies. We have now developed RT-PCR techniques which allow amplification of nearly all of the open reading frame from total RNA and have used the PCR products for mutational analysis. Single strand conformational polymorphism analysis detected aberrant migration in two unrelated patients,...

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PMID: 8504307
DOI: 10.1093/hmg/2.4.461

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Related research

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Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of LowePMID 8504307Read ↗

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Semantic proximity Read ↗

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Physical mapping and genomic structure of the Lowe syndrome gene OCRL1Semantic proximity Read ↗

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.Semantic proximity Read ↗

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.Semantic proximity Read ↗

Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.Semantic proximity Read ↗

OCRL mutation analysis in Italian patients with Lowe syndrome.Semantic proximity Read ↗

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.Semantic proximity Read ↗

Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.Semantic proximity Read ↗

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.Semantic proximity Read ↗

[A case report of genetic analysis in the OCRL1 gene in Lowe syndrome].Semantic proximity Read ↗

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.Semantic proximity Read ↗

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