2001•Journal of NeurologyRequires access

Mutation analysis in Charcot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity

Peter Young, Korbinian Grote, Gregor Kuhlenb�umer, Otfried Martin Debus, H. Kurlemann, Hartmut Halfter, Harald Funke, E. Bernd Ringelstein, Florian St�gbauer

Open publisher page 38 citations

Abstract

This record does not include an abstract. Use the full-text link above if available.

About this research paper

What this paper is about

An abstract is not available in the OpenAlex record for this paper.

Why it matters

OpenAlex reports 38 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Key concepts: Point mutation, Gene duplication, Peripheral myelin protein 22, Mutation, Gene, Genetics, Biology, Myelin

Back to paper search Browse research topics Original source

Mutation analysis in Charcot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity — Research Paper | ScholarLens