Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

In two brothers born to consanguineous parents, we identified an unusual neurological disease that manifested with ataxia, psychomotor retardation, cerebellar and cerebral atrophy, and leukodystrophy. Via linkage analysis and exome sequencing, we identified homozygous c.2801C>T (p.(Ser934Leu)) in...

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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Kara, Bülent, Köroğlu, Çiğdem, Peltonen, Karita, Steinberg, Ruchama C, Maraş Genç, Hülya, Hölttä-Vuori, Maarit, Güven, Ayşe, Kanerva, Kristiina, Kotil, Tuğba, Solakoğlu, Seyhun, Zhou, You, Olkkonen, Vesa M, Ikonen, Elina, Laiho, Marikki, Tolun, Aslıhan
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2017
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5334463/
https://ncbi.nlm.nih.gov/pubmed/28051070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.183
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