The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa Rican family with axonal neuropathy and autosomal recessive pattern of inheritance (CMT2B2)...

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Detalhes bibliográficos
Publicado no:Neurogenetics
Main Authors: Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekici, Arif B., Uebe, Steffen, Thiel, Christian T., Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280876/
https://ncbi.nlm.nih.gov/pubmed/30039206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-018-0555-7
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