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Updated: Feb 28, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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KRT6A变种是帕奇尼奇亚先天性的基础:对蛋白质聚合和PPAR信号的洞察

Yaqiong Ren1, Wensi Niu2, Yue Cao1

  • 1Laboratory of Pediatric Research, Wujiang District Children's Hospital, Suzhou, China.

American journal of medical genetics. Part A
|February 26, 2026
PubMed
概括

一种新的素6A (KRT6A) 基因变异导致先天性帕奇尼奇亚 (PC). 这项研究确定了遗传原因,揭示了致病机制,并强调了PPAR信号通路作为PC的治疗点.

关键词:
这种基因是KRT6A基因.这是PCPCPCPC.在PPAR信号通路中,丰富分析是一种丰富分析.基因型表型相关性相关性帕奇尼奇亚是先天性的.

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