Associated Papers
A rare case report of hemolysis in a newborn: hereditary elliptocytosis.
Jiang S et al.
Frontiers in Pediatrics, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1
[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].
Liu X et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023
BAT26 Only Microsatellite Instability with High Tumor Mutation Burden-A Rare Entity Associated with PTEN Protein Loss and High PD-L1 Expression.
Kang SY et al.
International Journal of Molecular Sciences, 2022
36142641 (PubMed )
Supplement: ijms-23-10730-s001.zip › ijms-1894791-supplementary.pdf
Newborn hereditary elliptocytosis confirmed by familial genetic testing.
Liu C et al.
International Journal of Laboratory Hematology, 2020
Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the α-spectrin gene.
Franck P et al.
International Journal of Laboratory Hematology, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon
Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.
Gaetani M et al.
Blood, 2008
The molecular basis of hereditary red cell membrane disorders.
Delaunay J
Blood Reviews, 2007
Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain.
Zhang Z et al.
Blood, 2001
Association of the alpha-spectrin R28H mutation with allele alphaLELY and with alphaI/alphaII domain haplotypes in three Brazilian families.
Bassères DS et al.
European Journal of Haematology, 2000
[Genetic heterogeneity and phenotypic variability of hereditary diseases. 2].
Gencík A
Vnitrni Lekarstvi, 1977
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