Familial Dysautonomia Is Caused by Mutations of the IKAP Gene

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...

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Bibliografiske detaljer
Main Authors: Anderson, Sylvia L., Coli, Rocco, Daly, Ira W., Kichula, Elizabeth A., Rork, Matthew J., Volpi, Sabrina A., Ekstein, Josef, Rubin, Berish Y.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2001
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Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274486/
https://ncbi.nlm.nih.gov/pubmed/11179021
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