Concepedia

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

Eva Nelis, Vincent Timmerman, Peter De Jonghe, Antoon Vandenberghe, Danielle Pham-Dinh, André Dautigny, Jean‐Jacques Martin, Christine Van Broeckhoven

Human Genetics · 1994 · 98 citations · 33 references

DOI

Concepts

References

33

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

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Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

H. Skre · Clinical Genetics · 1974 · 903 citations

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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

Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin

Greg Lemke, Richard Axel · Cell · 1985 · 534 citations

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The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

Pragna I. Patel, Benjamin B. Roa, R Schoener-Scott et al. · Nature Genetics · 1992 · 493 citations

, , +10