Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

OBJECTIVE: To identify the genetic cause of hypomyelinating leukodystrophy in 2 consanguineous families. METHODS: Homozygosity mapping combined with whole-exome sequencing of consanguineous families was performed. Mutation consequences were determined by studying the structural change of the protein...

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Publicat a:Neurol Genet
Autors principals: Dorboz, Imen, Dumay-Odelot, Hélene, Boussaid, Karima, Bouyacoub, Yosra, Barreau, Pauline, Samaan, Simon, Jmel, Haifa, Eymard-Pierre, Eleonore, Cances, Claude, Bar, Céline, Poulat, Anne-Lise, Rousselle, Christophe, Renaldo, Florence, Elmaleh- Bergès, Monique, Teichmann, Martin, Boespflug-Tanguy, Odile
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6283457/
https://ncbi.nlm.nih.gov/pubmed/30584594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000289
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