Concepedia

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B

Tanja Kulkens, Pieter A. Bolhuis, Ruud A. Wolterman, Stephan Kemp, Saskia te Nijenhuis, Linda J. Valentijn, Gerard W. Hensels, F.G.I. Jennekens, Marianne de Visser, Jessica E. Hoogendijk,

Nature Genetics · 1993 · 184 citations · 41 references

DOI

Concepts

References

41

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

, , +11

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

, , +16

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

, , +14

THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II

A E Harding, P. K. Thomas · Brain · 1980 · 829 citations

, , +17

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