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