Concepedia

Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations

Eva Nelis, Sandra Simokovic, Vincent Timmerman, Ann Löfgren, H. Backhovens, Peter De Jonghe, Jean-Jacques Martin, Christine Van Broeckhoven

Human Mutation · 1997 · 33 citations · 23 references

DOI

Concepts

References

23

‘Touchdown’ PCR to circumvent spurious priming during gene amplification

R.H. Don, Peter Cox, Brandon J. Wainwright et al. · Nucleic Acids Research · 1991 · 2.6K citations · Full text

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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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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

JoAnn Bergoffen, S. S. Scherer, S. Wang et al. · Science · 1993 · 1.1K 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

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