Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in ATP7A gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD. Methods: One 10-month-old Chinese bo...

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Detalles Bibliográficos
Autores principales: Zhi, Xiufang, Ai, Qi, Sheng, Wenchao, Yu, Yuping, Shu, Jianbo, Yu, Changshun, Yu, Xiaoli, Li, Dong, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008829/
https://www.ncbi.nlm.nih.gov/pubmed/35432457
http://dx.doi.org/10.3389/fgene.2022.852764

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008829/
https://www.ncbi.nlm.nih.gov/pubmed/35432457
http://dx.doi.org/10.3389/fgene.2022.852764

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