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

Familial dysautonomia (FD; also known as “Riley-Day syndrome”), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction. Previously, we had mapped the FD gene, DYS, t...

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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2001
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274473/
https://ncbi.nlm.nih.gov/pubmed/11179008
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