Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China
Author:
Funder
The National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/article/10.1007/s00277-018-3417-3/fulltext.html
Reference17 articles.
1. Gallagher PG, Forget BG (1998) Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis. Blood Cells Mol Dis 24(4):539–543. https://doi.org/10.1006/bcmd.1998.0217
2. Perrotta S, Gallagher PG, Mohandas N (2008) Hereditary spherocytosis. Lancet 372(9647):1411–1426. https://doi.org/10.1016/S0140-6736(08)61588-3
3. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in H (2012) Guidelines for the diagnosis and management of hereditary spherocytosis—2011 update. Br J Haematol 156(1):37–49. https://doi.org/10.1111/j.1365-2141.2011.08921.x
4. King MJ, Garcon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A, International Council for Standardization in H (2015) ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol 37(3):304–325. https://doi.org/10.1111/ijlh.12335
5. Becker PS, Tse WT, Lux SE, Forget BG (1993) Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. J Clin Investig 92(2):612–616. https://doi.org/10.1172/JCI116628
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1. Clinical manifestations of adult hereditary spherocytosis with novel SPTB gene mutations and hyperjaundice: A case report;World Journal of Clinical Cases;2023-02-26
2. Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report;BMC Pediatrics;2021-06-28
3. A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next‐generation sequencing in a Chinese family;International Journal of Laboratory Hematology;2021-05-11
4. Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis;The Journal of Gene Medicine;2019-02
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