Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8311469 | Clinica Chimica Acta | 2015 | 7 Pages |
Abstract
Three novel mutations are reported in this study. They expand the spectrum of genetic pathology underlying CTLN1. Overall this study provides new insight of CTLN1 and illustrates a comprehensive protocol investigating inborn errors of metabolism at the molecular level.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Joseph Kagunda Kimani, Tianying Wei, Kim Chol, Ying Li, Ping Yu, Sheng Ye, Xinwen Huang, Ming Qi,