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Am J Hum Genet
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
- S.A. Slaugenhaupt
- A. Blumenfeld
- S.P. Gill
- M. Leyne
- J. Mull
- M.P. Cuajungco
- C.B. Liebert
- B. Chadwick
- M. Idelson
- L. Reznik
- C.M. Robbins
- I. Makalowska
- M.J. Brownstein
- D. Krappmann
- C. Scheidereit
- C. Maayan
- F.B. Axelrod
- J.F. Gusella