Familial dysautonomia and the expansion of the Ashkenazi Jewish carrier screening panel.
Gilbert
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D000483:Alleles; D019943:Amino Acid Substitution; D002352:Carrier Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D004402:Dysautonomia, Familial / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007585:Jews / Q000145:classification / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D018832:Molecular Chaperones; D009081:Mucolipidoses / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D050053:TRPM Cation Channels; D005879:Tourette Syndrome / Q000208:ethnology / Q000235:genetics*; D035602:Transcriptional Elongation Factors; D050051:Transient Receptor Potential Channels
D002352:Carrier Proteins; C114720:Elp1 protein, human; C416674:MCOLN1 protein, human; D008565:Membrane Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human; D050053:TRPM Cation Channels; D035602:Transcriptional Elongation Factors; D050051:Transient Receptor Potential Channels