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hereditary elliptocytosis,HE相关文献:
Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R.
Ann Hematol. 2023 Sep;102(9):2343-2351. doi: 10.1007/s00277-023-05337-9. Epub 2023 Jul 4.
PMID:37400730
A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
Shih YH, Huang YC, Lin CY, Lin HY, Kuo SF, Lin JS, Shen MC.
Medicine (Baltimore). 2023 Jan 27;102(4):e32708. doi: 10.1097/MD.0000000000032708.
PMID:36705355
Red cell membrane disorders.
Narla J, Mohandas N.
Int J Lab Hematol. 2017 May;39 Suppl 1:47-52. doi: 10.1111/ijlh.12657.
PMID:28447420
Hereditary elliptocytosis: spectrin and protein 4.1R.
Gallagher PG.
Semin Hematol. 2004 Apr;41(2):142-64. doi: 10.1053/j.seminhematol.2004.01.003.
PMID:15071791
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA.
Blood Cells Mol Dis. 2016 Oct;61:4-9. doi: 10.1016/j.bcmd.2016.07.003. Epub 2016 Jul 17.
PMID:27667160
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A; International Council for Standardization in Haematology.
Int J Lab Hematol. 2015 Jun;37(3):304-25. doi: 10.1111/ijlh.12335. Epub 2015 Mar 18.
PMID:25790109
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.
Suemori S, Wada H, Nakanishi H, Tsujioka T, Sugihara T, Tohyama K.
Biomed Res Int. 2015;2015:451861. doi: 10.1155/2015/451861. Epub 2015 Oct 18.
PMID:26557672
Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
Anil More T, Kedar P.
Gene. 2022 Nov 15;843:146796. doi: 10.1016/j.gene.2022.146796. Epub 2022 Aug 9.
PMID:35961434
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.
Maillet P, Alloisio N, Morlé L, Delaunay J.
Hum Mutat. 1996;8(2):97-107. doi: 10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M.
PMID:8844207
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation.
Salomao M, Chen K, Villalobos J, Mohandas N, An X, Chasis JA.
Blood. 2010 Jul 15;116(2):267-9. doi: 10.1182/blood-2010-02-264127. Epub 2010 Mar 25.
PMID:20339087
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