1997•The American Journal of Human GeneticsOpen access

Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses

Christophe Philippe, Daniel Edward Porter, Mark E. Emerton, Dan E. Wells, A. Hamish, R. Wallace Simpson, Anthony P. Monaco

Open full text 131 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 131 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: Frameshift mutation, Genetics, Missense mutation, Hereditary multiple exostoses, Nonsense mutation, Biology, Exon, Mutation

Related papers

Back to paper searchBrowse research topicsOriginal source
Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses — Research Paper | ScholarLens