New mutations identified in a case of Glycogenin-1 deficiency
| Title: | New mutations identified in a case of Glycogenin-1 deficiency |
|---|---|
| Authors: | R. Pruvost; M. Csanyi; G. Lefebvre; V. Biancalana; E. Malfatti; F. Cassim; C. Oldfors; L. Defebvre; A. Oldfors; C. Tard |
| Source: | Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101046- (2024) |
| Publisher Information: | Elsevier, 2024. |
| Publication Year: | 2024 |
| Collection: | LCC:Medicine (General); LCC:Biology (General) |
| Subject Terms: | Medicine (General); R5-920; Biology (General); QH301-705.5 |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426923000927; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2023.101046 |
| Access URL: | https://doaj.org/article/f8c8cf4ffaa8467d8bb5d0937de4db13 |
| Accession Number: | edsdoj.f8c8cf4ffaa8467d8bb5d0937de4db13 |
| Database: | Directory of Open Access Journals |