• Mutation; HGNC; 5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=30905397).
  
• Mutation; HGNC; 756; ASPA; Simple; p.Tyr231Tyr (c.693C>T); ClinVar=VCV000197621; Zygosity=Heterozygous (Coriell=GM04663).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=29762696; DOI=10.1093/nar/gky395
Bruun G.H., Bang J.M.V., Christensen L.L., Broner S., Petersen U.S.S., Guerra B., Gronning A.G.B., Doktor T.K., Andresen B.S.
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Nucleic Acids Res. 46:7938-7952(2018)

PubMed=30905397; DOI=10.1016/j.ajhg.2019.02.009
Morini E., Gao D.-D., Montgomery C.M., Salani M., Mazzasette C., Krussig T.A., Swain B., Dietrich P., Narasimhan J., Gabbeta V., Dakka A., Hedrick J., Zhao X., Weetall M., Naryshkin N.A., Wojtkiewicz G.R., Ko C.-P., Talkowski M.E., Dragatsis I., Slaugenhaupt S.A.
ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia.
Am. J. Hum. Genet. 104:638-650(2019)