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Article

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

Human mutation - 1 Jan 1996

Fuchs S, van de Pol D, Beudt U, Kellner U, Meire F, Berger W, Gal A

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Source

Identifiers

PMID: 8807344
DOI: 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.PMID 8807344Read ↗

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

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

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

Norrie disease: extraocular clinical manifestations in 56 patients.Semantic proximity Read ↗

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

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