Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated Belarusian families. In both families, one of...

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Veröffentlicht in:J Pediatr Genet
Hauptverfasser: Rudenskaya, Galina E., Marakhonov, Andrey V., Shchagina, Olga A., Lozier, Ekaterina R., Dadali, Elena L., Akimova, Irina A., Petrova, Nika V., Konovalov, Fedor A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Georg Thieme Verlag KG 2019
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6499616/
https://ncbi.nlm.nih.gov/pubmed/31061747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1684008
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