Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1
- 10 August 2006
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 70 (3) , 253-256
- https://doi.org/10.1111/j.1399-0004.2006.00669.x
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesHuman Mutation, 2001
- Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathiesNature Genetics, 1998
- Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative StudyEuropean Journal of Human Genetics, 1996
- Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited diseaseTrends in Genetics, 1994
- Connexin Mutations in X-Linked Charcot-Marie-Tooth DiseaseScience, 1993
- Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 geneNature Genetics, 1993
- Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 GeneNew England Journal of Medicine, 1993
- Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1ANature Genetics, 1992
- Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)Neuromuscular Disorders, 1991
- THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND IIBrain, 1980