Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

‘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

Life Sciences, Biotechnology, Molecular Biology +7

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

Life Sciences, Genetics, Molecular Genetics +14

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

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

Medicine, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Genetics +12

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

Linda J. Valentijn, Frank Baas, Ruud A. Wolterman et al. · Nature Genetics · 1992 · 423 citations

Life Sciences, Genetics, Molecular Genetics +11