135 related articles for article (PubMed ID: 31922588)
1. [Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].
Liu H; Huang J; Jiang Y; Guo L; Xiao H; Wang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jan; 37(1):17-20. PubMed ID: 31922588
[TBL] [Abstract][Full Text] [Related]
2. A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
Nieminen TT; Liyanarachchi S; Comiskey DF; Wang Y; Li W; Hendrickson IV; Brock P; de la Chapelle A; He H
Mol Genet Genomic Med; 2021 May; 9(5):e1641. PubMed ID: 33943044
[TBL] [Abstract][Full Text] [Related]
3. [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of
Chen XL; Li JG; Men Q; Li X
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2023 Feb; 31(1):183-188. PubMed ID: 36765497
[TBL] [Abstract][Full Text] [Related]
4. SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
Meglic A; Debeljak M; Kovac J; Trampus Bakija A; Rajic V; Kojc N; Trebusak Podkrajsek K
Nefrologia (Engl Ed); 2020; 40(4):421-428. PubMed ID: 32113667
[TBL] [Abstract][Full Text] [Related]
5. Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.
Fan LL; Liu JS; Huang H; Du R; Xiang R
J Gene Med; 2019 Feb; 21(2-3):e3073. PubMed ID: 30690801
[TBL] [Abstract][Full Text] [Related]
6. Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.
Shin S; Jang W; Kim M; Kim Y; Park SY; Park J; Yang YJ
Medicine (Baltimore); 2018 Jan; 97(3):e9677. PubMed ID: 29505016
[TBL] [Abstract][Full Text] [Related]
7. A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.
Li S; Guo P; Mi L; Chai X; Xi K; Liu T; Lu L; Li J
Ann Hematol; 2022 Apr; 101(4):731-738. PubMed ID: 35099593
[TBL] [Abstract][Full Text] [Related]
8. A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao).
Garbarz M; Galand C; Bibas D; Bournier O; Devaux I; Harousseau JL; Grandchamp B; Dhermy D
Br J Haematol; 1998 Jan; 100(1):90-8. PubMed ID: 9450796
[TBL] [Abstract][Full Text] [Related]
9. [Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene].
Qin YM; Liao L; Deng XL; Huang J; Wei HY; Lin FQ
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2022 Apr; 30(2):552-558. PubMed ID: 35395996
[TBL] [Abstract][Full Text] [Related]
10. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
Maciag M; Płochocka D; Adamowicz-Salach A; Burzyńska B
Br J Haematol; 2009 Aug; 146(3):326-32. PubMed ID: 19538529
[TBL] [Abstract][Full Text] [Related]
11. Case report: Genetic analysis of a novel intronic inversion variant in the
Xi B; Liu S; Zhu Y; Zhang D; Zhang Y; Liu A
Front Genet; 2023; 14():1309040. PubMed ID: 38111681
[No Abstract] [Full Text] [Related]
12. A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
Zhao RQ; Jiang F; Li J; Zhou JY; Tang XW; Li FT; Chen LQ; Li DZ
Int J Lab Hematol; 2021 Dec; 43(6):e294-e297. PubMed ID: 33974364
[No Abstract] [Full Text] [Related]
13. 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.
Du Z; Luo G; Wang K; Bing Z; Pan S
BMC Pediatr; 2021 Jun; 21(1):291. PubMed ID: 34182956
[TBL] [Abstract][Full Text] [Related]
14. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
Becker PS; Tse WT; Lux SE; Forget BG
J Clin Invest; 1993 Aug; 92(2):612-6. PubMed ID: 8102379
[TBL] [Abstract][Full Text] [Related]
15. Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing.
Jang W; Kim J; Chae H; Kim M; Koh KN; Park CJ; Kim Y
Int J Hematol; 2019 Aug; 110(2):250-254. PubMed ID: 30903564
[TBL] [Abstract][Full Text] [Related]
16. Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.
Qin L; Nie Y; Zhang H; Chen L; Zhang D; Lin Y; Ru K
J Hum Genet; 2020 Apr; 65(4):427-434. PubMed ID: 31980736
[TBL] [Abstract][Full Text] [Related]
17. [Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma].
Guo X; Zheng Q; Lin M; Zhang Y; Shi T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):549-552. PubMed ID: 34096023
[TBL] [Abstract][Full Text] [Related]
18. The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.
Fan J; Yao L; Lu D; Yao Y; Sun Y; Tian Y; Mou L; Chen L; Zhao L; Qiao S; Hu S; Zhu Y
J Hum Genet; 2021 Dec; 66(12):1153-1158. PubMed ID: 34140613
[TBL] [Abstract][Full Text] [Related]
19. Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency.
Miraglia del Giudice E; Lombardi C; Francese M; Nobili B; Conte ML; Amendola G; Cutillo S; Iolascon A; Perrotta S
Br J Haematol; 1998 May; 101(2):251-4. PubMed ID: 9609518
[TBL] [Abstract][Full Text] [Related]
20. A Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the
Yang K; Ren Q; Wu Y; Zhou Y; Yin X
Hemoglobin; 2019 Mar; 43(2):140-144. PubMed ID: 31190573
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]