IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies

Berish Y Rubin, Sylvia L Anderson Department of Biological Sciences, Fordham University, Bronx, NY, USA Abstract: The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders. The identification of the mutations that cause f...

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Hlavní autoři:	Rubin BY, Anderson SL
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Dove Medical Press 2017-12-01
Edice:	The Application of Clinical Genetics
Témata:	Familial Dysautonomia IKBKAP ELP1 gene-targeted therapies RNA splicing
On-line přístup:	https://www.dovepress.com/ikbkapelp1-gene-mutations-mechanisms-of-familial-dysautonomia-and-gene-peer-reviewed-article-TACG
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