Article
[Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021
Li Xiaoli, Jia Tianming, Zhang Xiaoli, Gan Ling, Guo Qiliang, Li Xiao
Abstract excerpt
OBJECTIVE: To explore the genetic basis for three children with Menkes disease. METHODS: The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Multiplex ligation-dependent probe amplification (MLPA) was also carried out to detect potential deletions...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.