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Article

Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins

1 Oct 1992

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1303264
DOI: 10.1038/ng1092-139

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucinsPMID 1303264Read ↗

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

Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophagesSemantic proximity Read ↗

A novel mutation in the Norrie disease gene.Semantic proximity Read ↗

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

A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease.Semantic proximity Read ↗

Mutations in the Norrie disease gene.Semantic proximity Read ↗

γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.Semantic proximity Read ↗

A characteristic phenotypic retinal appearance in Norrie disease.Semantic proximity Read ↗

Evolution and Medical Significance of LU Domain−Containing ProteinsSemantic proximity Read ↗

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

A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.Semantic proximity Read ↗

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos DiseaseSemantic proximity Read ↗

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