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Hemoglobin Kansas: First Korean Family and Literature Review.

作者信息

Jo Irene, Jang Woori, Chae Hyojin, Kim So Young, Kim Myungshin, Kim Yonggoo, Han Kyungja

机构信息

Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

Ann Lab Med. 2017 Jul;37(4):352-354. doi: 10.3343/alm.2017.37.4.352.

DOI:10.3343/alm.2017.37.4.352
PMID:28445020
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5409020/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8356/5409020/9cd5a1c1ced3/alm-37-352-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8356/5409020/9cd5a1c1ced3/alm-37-352-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8356/5409020/9cd5a1c1ced3/alm-37-352-g001.jpg

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本文引用的文献

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A Novel Hemoglobin Variant Associated with Congenital Erythrocytosis: Hb Seoul [β86(F2)Ala→Thr] (HBB:c.259G>A).一种与先天性红细胞增多症相关的新型血红蛋白变异体：首尔血红蛋白[β86(F2)丙氨酸→苏氨酸]（HBB:c.259G>A）
Ann Clin Lab Sci. 2016 May;46(3):312-4.
2
The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia.首例严重溶血性贫血患者 HbKoriyama 核苷酸水平鉴定研究。
Ann Lab Med. 2012 Jan;32(1):99-101. doi: 10.3343/alm.2012.32.1.99. Epub 2011 Dec 20.
3
Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19).
新型 Gγ-β 杂合血红蛋白的分子鉴定：Hb Gγ-β Ulsan（Gγ 13 位突变；β 19 位突变）。
Blood Cells Mol Dis. 2010 Dec 15;45(4):276-9. doi: 10.1016/j.bcmd.2010.10.001. Epub 2010 Oct 29.
4
Hemoglobin Yamagata: hemoglobin variant detected by HbA1c test.
Korean J Lab Med. 2009 Dec;29(6):536-40. doi: 10.3343/kjlm.2009.29.6.536.
5
A novel hemoglobin variant beta135(H13) Ala > Asp identified in an asymptomatic Korean family by direct sequencing: suggesting a new insight into Hb Beckman mutation.通过直接测序在一个无症状的韩国家族中发现的新型血红蛋白变异体β135（H13）Ala > Asp：提示对 Hb Beckman 突变的新见解。
Int J Lab Hematol. 2010 Feb;32(1 Pt 1):e175-8. doi: 10.1111/j.1751-553X.2009.01156.x. Epub 2009 Apr 22.
6
Incidence of variant hemoglobin (Hb) and increased fetal Hb concentrations and their effect on Hb A1c measurement in a Korean population.
Clin Chem. 2006 Jul;52(7):1445-6. doi: 10.1373/clinchem.2006.069617.
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A human hemoglobin with lowered oxygen affinity and impaired heme-heme interactions.一种氧亲和力降低且血红素-血红素相互作用受损的人血红蛋白。
J Clin Invest. 1961 Oct;40(10):1826-33. doi: 10.1172/JCI104406.
8
A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia.
Hemoglobin. 2001 Feb;25(1):79-89. doi: 10.1081/hem-100103072.
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Hb Madrid [beta115(G17)Ala-->Pro] in a Korean family with chronic hemolytic anemia.
Hemoglobin. 2000 May;24(2):133-8. doi: 10.3109/03630260009003432.
10
The first case of Hb Köln [beta98(FG5)Val-->Met] in Korea.
Hemoglobin. 1999 Aug;23(3):287-9. doi: 10.3109/03630269909005711.