A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.

A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.

Malfunction of pre-mRNA processing factors are linked to several human diseases including cancer and neurodegeneration. Here we report the identification of a de novo heterozygous missense mutation in the SNRPE gene (c.65T>C (p.Phe22Ser)) in a patient with non-syndromal primary (congenital) micro...

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Bibliographic Details
Main Authors: Tao Chen, Bin Zhang, Thomas Ziegenhals, Archana B Prusty, Sebastian Fröhler, Clemens Grimm, Yuhui Hu, Bernhard Schaefke, Liang Fang, Min Zhang, Nadine Kraemer, Angela M Kaindl, Utz Fischer, Wei Chen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-10-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008460

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https://doi.org/10.1371/journal.pgen.1008460

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