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

doi:10.1038/ng0594-79

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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 cultur...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cells, Cultured
Ciliary Neurotrophic Factor
DNA, Complementary
Gene Expression
Genotype
Humans
Introns
Japan
Molecular Sequence Data
Nerve Tissue Proteins
Nervous System Diseases
Point Mutation
Polymerase Chain Reaction
RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 8075647
DOI: 10.1038/ng0594-79

Genes

CNTF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8075647-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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