Title: | Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea |
Journal : | Frontiers in pharmacology, 10 |
Authors: | Liu Z, Author ; Zhang L ; Shen D ; Ding C ; Yang X ; Zhang W ; Li J ; Deng J ; Gong S ; Liu J ; Qian S ; Fang F |
Material Type: | Article |
Publication Date: | 12/03/2019 |
Languages: | English |
Pubmed / DOI : | DOI : 10.3389/fphar.2019.00259 / Pubmed : 30914958 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/30914958 |