The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency.
作者信息
Masson Emmanuelle, Férec Claude, Chen Jian-Min
机构信息
Inserm, Univ Brest, EFS, UMR 1078, GGB, Brest, France.
CHRU Brest, Brest, France.
出版信息
Hum Mutat. 2021 Feb;42(2):216-217. doi: 10.1002/humu.24153. Epub 2020 Dec 16.
PMID:33326652
Abstract
摘要
Zotero 插件