A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function
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DOI: 10.1093/hmg/ddy336
Abstract: Abstract Protein zero (P0) is the major structural protein in peripheral myelin, and mutations in the Myelin Protein Zero (Mpz) gene produce wide‐ranging hereditary neuropathy phenotypes. To gain insight in the mechanisms underlying a particularly… read more here.
Keywords: protein; abnormal function; hypomyelination; gain abnormal ... See more keywords