Blar i forfatter Doktorgradsavhandlinger (Helsefak) "Østern, Rune André Helland"
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Charcot-Marie-Tooth disease (CMT): statistical analysis and revision of molecular genetic diagnostics in a patient population and identification of the disease locus in a large Norwegian family with CMT.
Østern, Rune André Helland (Doctoral thesis; Doktorgradsavhandling, 2014-09-19)CMT is a common inherited disease of the peripheral nerves that may be caused by mutations in multiple genes, most are rare. Our aim was to describe the spectrum of mutations and genes in Norwegian CMT patients, identify factors associated with diagnostic findings, revise the testprotocol, and evaluate the assessments of genetic variants of uncertain clinical significance. Furthermore, we searched ...