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Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis.

作者信息

Gallagher P G, Forget B G

机构信息

Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520-8064, USA.

出版信息

Blood Cells Mol Dis. 1998 Dec;24(4):539-43. doi: 10.1006/bcmd.1998.0217.

DOI:10.1006/bcmd.1998.0217
PMID:9887280
Abstract
摘要

相似文献

1
Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis.血液学重要突变：遗传性球形红细胞增多症中的血影蛋白和锚蛋白变体
Blood Cells Mol Dis. 1998 Dec;24(4):539-43. doi: 10.1006/bcmd.1998.0217.
2
Hematologically important mutations: ankyrin variants in hereditary spherocytosis.血液学重要突变：遗传性球形红细胞增多症中的锚蛋白变体
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3
Search for the candidate genes in dominant hereditary spherocytosis using linkage analysis.利用连锁分析寻找显性遗传性球形红细胞增多症的候选基因。
C R Acad Sci III. 1996 Oct;319(10):913-9.
4
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.锚蛋白-1突变是显性和隐性遗传性球形红细胞增多症的主要病因。
Nat Genet. 1996 Jun;13(2):214-8. doi: 10.1038/ng0696-214.
5
Clinical and molecular evaluation of non-dominant hereditary spherocytosis.非显性遗传性球形红细胞增多症的临床与分子评估
Br J Haematol. 2001 Jan;112(1):42-7. doi: 10.1046/j.1365-2141.2001.02501.x.
6
Spectrin oligomerization is cooperatively coupled to membrane assembly: a linkage targeted by many hereditary hemolytic anemias?血影蛋白寡聚化与膜组装协同偶联：这是许多遗传性溶血性贫血所针对的一种联系吗？
Exp Mol Pathol. 2001 Jun;70(3):215-30. doi: 10.1006/exmp.2001.2377.
7
Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations.遗传性球形红细胞增多症中锚蛋白突变的低发生率：三个新突变的鉴定
Hum Mutat. 2000 Dec;16(6):529. doi: 10.1002/1098-1004(200012)16:6<529::AID-HUMU13>3.0.CO;2-N.
8
A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis?ANK1基因中的一种新型L1340P突变与遗传性球形红细胞增多症有关吗？
Br J Haematol. 2014 Oct;167(2):269-71. doi: 10.1111/bjh.12960. Epub 2014 Jun 5.
9
Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene.与β-血影蛋白基因无效突变相关的遗传性球形红细胞增多症伴血影蛋白缺乏症。
Blood Cells Mol Dis. 1998 Jun;24(2):251-61. doi: 10.1006/bcmd.1998.0190.
10
Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.与α-血影蛋白反式排列的新型α-血影蛋白突变导致遗传性球形红细胞增多症引起的严重新生儿黄疸。
Neonatology. 2014;106(4):355-7. doi: 10.1159/000365586. Epub 2014 Oct 1.

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Front Med (Lausanne). 2022 Feb 11;9:823724. doi: 10.3389/fmed.2022.823724. eCollection 2022.
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Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a ankyrin mutation: A case report.因锚蛋白突变导致遗传性球形红细胞增多症的新生儿严重高胆红素血症：一例报告。
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J Biol Chem. 2021 Jan-Jun;296:100464. doi: 10.1016/j.jbc.2021.100464. Epub 2021 Feb 25.
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