A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation

Previous research has demonstrated the mutation, c.712T>A (p.L238Q) of the gene for α-L- iduronidase (IDUA) in patients with Hurler-Scheie syndrome is relatively severe when paired with a nonsense or deletion or splice-site mutation. This mutation was also found to be associated with psychiatric...

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Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Ahmed, Alia, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Eisengart, Julie B., King, Kelly, Chen, Agnes, Dickson, Patricia, Whitley, Chester B.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2019
Témata:
Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6603334/
https://ncbi.nlm.nih.gov/pubmed/31304092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100484
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