Concepedia

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero

Helle Høyer, Geir J. Braathen, Anette K. Eek, Camilla Furu Skjelbred, Michael Bjørn Russell

European Journal of Medical Genetics · 2011 · 27 citations · 16 references

DOI

Concepts

References

16

Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text

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Large-Scale Copy Number Polymorphism in the Human Genome

Jonathan Sebat, B. Lakshmi, Jennifer Troge et al. · Science · 2004 · 2.6K citations

, , +17

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt et al. · Cell · 1991 · 1.3K citations

, , +14

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Phillip F. Chance, M. Kathryn Alderson, Kathleen A. Leppig et al. · Cell · 1993 · 806 citations

, , +12

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

Peter Raeymaekers, Vincent Timmerman, Eva Nelis et al. · Neuromuscular Disorders · 1991 · 599 citations

, , +12