通过家族基因检测确诊的新生儿遗传性椭圆形红细胞增多症 - Suppr

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超能文献

Newborn hereditary elliptocytosis confirmed by familial genetic testing.

作者信息

Liu Changseung, Eun Ho Sun, Nah Hyunjin, Lee Seung-Tae, Choi Jong Rak, Kim Hyun Ok

机构信息

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

出版信息

Int J Lab Hematol. 2020 Feb;42(1):e20-e22. doi: 10.1111/ijlh.13079. Epub 2019 Jul 9.

DOI:10.1111/ijlh.13079

PMID:31286676

Abstract

摘要

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Newborn hereditary elliptocytosis confirmed by familial genetic testing.通过家族基因检测确诊的新生儿遗传性椭圆形红细胞增多症

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Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis.用于检测遗传性椭圆形红细胞增多症患者血影蛋白突变的快速筛查方法。

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[Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity].[遗传性球形红细胞增多症和椭圆形红细胞增多症中红细胞膜骨架的紊乱：分子缺陷对发病机制和临床严重程度的意义]

Klin Padiatr. 1991 Jul-Aug;203(4):284-95. doi: 10.1055/s-2007-1025443.

[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant].[遗传性椭圆形红细胞增多症溶血型中血影蛋白αI/74变异纯合子的基因异常研究]

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Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin.贝宁与遗传性椭圆形红细胞增多症相关的血影蛋白突变及血影蛋白多态性的流行病学研究。

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Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis.一个患有输血依赖型纯合子遗传性椭圆形红细胞增多症的家族中血影蛋白二聚体-二聚体结合缺陷。

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An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.一种与α v/41多态性顺式相关的、导致遗传性椭圆形红细胞增多症的α-血影蛋白突变。

Hum Genet. 1993 Feb;90(6):641-4. doi: 10.1007/BF00202482.

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A rare case report of hemolysis in a newborn: hereditary elliptocytosis.一例新生儿溶血的罕见病例报告：遗传性椭圆形红细胞增多症。

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[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].遗传性椭圆形红细胞增多症患者的临床及基因突变特征：9例报告并文献复习

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Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports.重度新生儿高胆红素血症的临床特征及基因变异：五例病例报告

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