A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

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

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

Medicine, Genetics, Molecular Genetics +10

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

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

Carol A. Wise, A. Craig Chinault, Pragna I. Patel et al. · Nature Genetics · 1992 · 388 citations

Life Sciences, Genetics, Molecular Genetics +16

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Kiyoshi Hayasaka, Masato Himoro, Wataru Sato et al. · Nature Genetics · 1993 · 364 citations

Medicine, Genetics, Neurology +12