Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

Authors :: Slaugenhaupt, Susan A.
Blumenfeld, Anat
Gill, Sandra P.
Leyne, Maire
Mull, James
Cuajungco, Math P.
Liebert, Christopher B.
Chadwick, Brian
Idelson, Maria
Reznik, Luba
Robbins, Christiane M.
Makalowska, Izabela
Brownstein, Michael J.
Krappmann, Daniel
Scheidereit, Claus
Maayan, Channa
Axelrod, Felicia B.
Gusella, James F.
Source :: American Journal of Human Genetics. March, 2001, Vol. 68 Issue 3, 598
Publication Year :: 2001

Subjects :: Dysautonomia -- Genetic aspects
Ashkenazim -- Diseases
Gene mutations -- Research
Human genetics -- Research
Biological sciences

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