Publications:

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.

Bmc Medical Genetics

Østern, Rune R; Fagerheim, Toril T; Hjellnes, Helene H; Nygård, Bjørn B; Mellgren, Svein I SI; Nilssen, Øivind Ø

Publication Date: 2013-09-21

Variant appearance in text: GJB1: 775del

PubMed Link: 24053775

Variant Present in the following documents:

• Main text
• 1471-2350-14-94.pdf

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