1993•Nature GeneticsRequires access

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

Benjamin B. Roa, Carlos A. Garcia, Liu Pentao, James M. Killian, Barbara J. Trask, Ueli Suter, G. Jackson Snipes, Rocio Ortı́z-López, Eric M. Shooter, Pragna I. Patel, James R. Lupski

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Key concepts: Peripheral myelin protein 22, Point mutation, Compound heterozygosity, Genetics, Biology, Gene duplication, Mutation, Heterozygote advantage

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Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A — Research Paper | ScholarLens