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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Detalles Bibliográficos
Autores principales: Chen, Tao, Zhang, Bin, Ziegenhals, Thomas, Prusty, Archana B., Fröhler, Sebastian, Grimm, Clemens, Hu, Yuhui, Schaefke, Bernhard, Fang, Liang, Zhang, Min, Kraemer, Nadine, Kaindl, Angela M., Fischer, Utz, Chen, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850558/
https://www.ncbi.nlm.nih.gov/pubmed/31671093
http://dx.doi.org/10.1371/journal.pgen.1008460

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