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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Veröffentlicht in:	American journal of human genetics 2001-03, Vol.68 (3), p.753-758
Hauptverfasser:	Anderson, Sylvia L., Coli, Rocco, Daly, Ira W., Kichula, Elizabeth A., Rork, Matthew J., Volpi, Sabrina A., Ekstein, Josef, Rubin, Berish Y.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Base Sequence Biological and medical sciences Carrier Proteins - genetics chromosome 9 Chromosome Mapping Chromosomes, Human, Pair 9 Consensus Sequence DYS gene Dysautonomia, Familial - genetics Exons Female Humans IKAP gene Male Medical sciences Molecular Sequence Data Mutation Nervous system involvement in other diseases. Miscellaneous Neurology Pedigree Reverse Transcriptase Polymerase Chain Reaction Sequence Deletion Transcriptional Elongation Factors
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