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The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency
Author(s) -
Masson Emmanuelle,
Férec Claude,
Chen JianMin
Publication year - 2021
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.24153
Subject(s) - biology , breakpoint , exocrine pancreatic insufficiency , sequence (biology) , genetics , computational biology , gene , cystic fibrosis , chromosomal translocation