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Article

A null mutation in the human CNTF gene is not causally related to neurological diseases.

Nature genetics - 1 May 1994

Takahashi R, Yokoji H, Misawa H, Hayashi M, Hu J, Deguchi T

Abstract excerpt

We report a null mutation in the human ciliary neurotrophic factor gene (CNTF). The mutated allele shows a G to A transition producing a new splice acceptor site and the resulting mRNA species codes for an aberrant protein. Analysis of tissue samples and transfection of CNTF minigenes into cultured cells demonstrates that the mutated allele expresses only the mutated mRNA species. In 391 Japanese people tested,...

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Identifiers

PMID: 8075647
DOI: 10.1038/ng0594-79

Genes

CNTF

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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.

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A null mutation in the human CNTF gene is not causally related to neurological diseases.PMID 8075647Read ↗

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Association between a null mutation in the human ciliary neurotrophic factor (CNTF) gene and increased incidence of psychiatric diseases?Semantic proximity Read ↗

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