Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

Mutations in the Aristaless-related homeobox gene (ARX) lead to a range of X-linked intellectual disability phenotypes, with truncating variants generally resulting in severe X-linked lissencephaly with ambiguous genitalia (XLAG), and polyalanine expansions and missense variants resulting in infanti...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Moey, Ching, Topper, Scott, Karn, Mary, Johnson, Amy Knight, Das, Soma, Vidaurre, Jorge, Shoubridge, Cheryl
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4930085/
https://ncbi.nlm.nih.gov/pubmed/26306640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.176
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