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Article

Familial dysautonomia is caused by mutations of the IKAP gene.

American journal of human genetics - 1 Mar 2001

Anderson S L, Coli R, Daly I W, Kichula E A, Rork M J, Volpi S A, Ekstein J, Rubin B Y

Abstract excerpt

The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification. We identified and characterized the RNAs encoded by this region of chromosome 9 in cell lines derived from individuals homozygous for the major FD haplotype, and we observed that the RNA encoding the IkappaB kinase complex-associated protein (IKAP) lacks...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 11179021
DOI: 10.1086/318808
PMCID: PMC1274486

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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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Familial dysautonomia is caused by mutations of the IKAP gene.PMID 11179021Read ↗

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