A case report of dyskeratosis congenita caused by a novel TERC mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00277-023-05424-x.pdf
Reference8 articles.
1. Mender I, Shay JW (2015) Telomere restriction fragment (TRF) analysis. Bio Protoc 5(22). https://doi.org/10.21769/bioprotoc.1658
2. Mender I, Shay JW (2015) Telomerase repeated amplification protocol (TRAP). Bio Protoc 5(22). https://doi.org/10.21769/bioprotoc.1657
3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30
4. Savage SA, Bertuch AA (2010) The genetics and clinical manifestations of telomere biology disorders. Genet Med 12(12):753–764. https://doi.org/10.1097/GIM.0b013e3181f415b5
5. Grill S, Nandakumar J (2021) Molecular mechanisms of telomere biology disorders. J Biol Chem 296:100064. https://doi.org/10.1074/jbc.REV120.014017
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