Re: Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs
- 15 June 2024
- journal article
- letter
- Published by Springer Nature in Human Cell
- Vol. 37 (5) , 1610-1611
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
- Identification of a family with van der Hoeve’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCsHuman Cell, 2024
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- HGVS Recommendations for the Description of Sequence Variants: 2016 UpdateHuman Mutation, 2016
- The biochemistry of collagen.1975