Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.
Slaugenhaupt
Susan A
SA
Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA 02115, USA. slaugenh@helix.mgh.harvard.edu
D001921:Brain / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D004402:Dysautonomia, Familial / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation; D009928:Organ Specificity; D035602:Transcriptional Elongation Factors
D002352:Carrier Proteins; C114720:Elp1 protein, human; D035602:Transcriptional Elongation Factors