Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) are two inherited peripheral neuropathies. The most prevalent mutations are a reciprocal 1.5-Mb duplication and 1.5-Mb deletion, respectively, at the CMT1A/HNPP locus on chromosome 17p11.2. Point mu...

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Veröffentlicht in:Human genetics 1997-06, Vol.99 (6), p.746-754
Hauptverfasser: BORT, S, NELIS, E, VAN BROECKHOVEN, C, PALAU, F, TIMMERMAN, V, SEVILLA, T, CRUZ-MARTINEZ, A, MARTINEZ, F, MILLAN, J. M, ARPA, J, VILCHEZ, J. J, PRIETO, F
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Sprache:eng
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