Browsing by Author "9de2e420-0858-4a28-8d6e-4e7e1f6d1ddb"
Now showing items 1-1 of 1
-
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
Leal, Alejandro; Bogantes-Ledezma, Sixto; Ekic, Arif B.; Uebe, Steffen; Sticht, Heinrich; Berghoff, Martin; Berghoff, Corinna; Morera, Bernal; Meisterernst, Michael; Reis, André (Springer, 2018-07-24)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 ...