2020•European Archives of Oto-Rhino-LaryngologyRequires access

Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I

Zhijie Niu, Lingyun Mei, Fen Tang, Jia‐Da Li, Xueping Wang, Jie Sun, Chufeng He, Hongsheng Cheng, Yalan Liu, Xinzhang Cai, Jian Song, Yong Feng, Lu Jiang

Open publisher page 2 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 2 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: PAX3, Haploinsufficiency, Missense mutation, Genetics, Waardenburg syndrome, Biology, Microphthalmia-associated transcription factor, Mutation

Back to paper search Browse research topics Original source

Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I — Research Paper | ScholarLens