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Article

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

Human molecular genetics - 1 Mar 1995

Meindl A, Lorenz B, Achatz H, Hellebrand H, Schmitz-Valckenberg P, Meitinger T

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 7795608
DOI: 10.1093/hmg/4.3.489

Genes

NDP

Provenance

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Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.PMID 7795608Read ↗

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.Semantic proximity Read ↗

NDP gene mutations in 14 French families with Norrie disease.Semantic proximity Read ↗

Mutation in the ADNP gene associated with Noonan syndrome features.Semantic proximity Read ↗

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.Semantic proximity Read ↗

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Mutations in the Norrie disease gene.Semantic proximity Read ↗

[Analysis of gene mutation in a Chinese family with Norrie disease].Semantic proximity Read ↗

Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.Semantic proximity Read ↗

Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.Semantic proximity Read ↗

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.Semantic proximity Read ↗

Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucinsSemantic proximity Read ↗

Mutations in the candidate gene for Norrie disease.Semantic proximity Read ↗

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