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pro vyhledávání: '"D. A. Kulpa"'
Autor:
Eric M. Shooter, D. A. Kulpa, James R. Lupski, A. A. Welcher, Ueli Suter, G. J. Snipes, Benjamin B. Roa, Pragna Patel, Carol Wise, C. A. Garcia, J. Mueller
Publikováno v:
New England Journal of Medicine. 329:96-101
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. CMT type 1A is associated with a 1.5-megabase DNA duplication in region p11.2-p12 of chromosome 17 in most patients. An increased dosage of a gene within the duplic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e5179ad319e681fd37f404fa8f4199
https://doi.org/10.1056/nejm199307083290205
https://doi.org/10.1056/nejm199307083290205
