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Article

Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.

Human molecular genetics - 1 Oct 1993

Chen Z Y, Battinelli E M, Woodruff G, Young I, Breakefield X O, Craig I W

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8268931
DOI: 10.1093/hmg/2.10.1727

Genes

NDP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.PMID 8268931Read ↗

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Predicted pathogenic missense mutation of PGRN found in a normal control.Semantic proximity Read ↗

Novel RHD variant causing RhD negative phenotype identified in a pregnant woman.Semantic proximity Read ↗

Identification of a novel c.94dupA mutation in RHD allele.Semantic proximity Read ↗

A novel mutation of the PKD2 gene in a Japanese patient with autosomal dominant polycystic kidney disease and complete situs inversus.Semantic proximity Read ↗

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

The c.254C>A change (p.Ala85Glu) in RHD causing a weak D phenotype.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 ↗

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