Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia

We recently identified a mutation in the I-κB kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. This alteration, located at base pair 6 of the intron 20 donor splice site, is present on >99.5% of FD chromosomes...

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Main Authors: Cuajungco, Math P., Leyne, Maire, Mull, James, Gill, Sandra P., Lu, Weining, Zagzag, David, Axelrod, Felicia B., Maayan, Channa, Gusella, James F., Slaugenhaupt, Susan A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180251/
https://ncbi.nlm.nih.gov/pubmed/12577200
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