Hb EAST TIMOR [β80(EF4) Asn→His, AAC> CAC (HBB c.241A> C)], A VARIANT HEMOGLOBIN ASSOCIATED WITH NORMAL HEMATOLOGY

被引：2
作者：
Finlayson, Jill [1 ,3 ]
Ghassemifar, Reza [1 ,3 ]
Holmes, Paula [1 ]
Grey, Dianne [1 ]
Figliomeni, Lisa [2 ]
Newbound, Christopher [2 ]
Pell, Nicole [2 ]
Kersten, Michael [2 ]
Jennens, Michelle [2 ]
Macaulay, Claire [2 ]
Greenwood, Laura [2 ]
Beilby, John [2 ,3 ]
机构：
[1] Queen Elizabeth II Med Ctr, PathWest Lab Med, Dept Hematol, Nedlands, WA, Australia
[2] Queen Elizabeth II Med Ctr, PathWest Lab Med, Dept Diagnost Mol Genet, Nedlands, WA, Australia
[3] Univ Western Australia, Sch Pathol & Lab Med, Nedlands, WA 6009, Australia
来源：
HEMOGLOBIN | 2010年 / 34卷 / 06期
关键词：
beta-Globin; Hemoglobin (Hb) variant; Codon; 80; HBB:c.241A > C; BETA-THALASSEMIA; G-SZUHU;
D O I：
10.3109/03630269.2010.526896
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Routine hemoglobin (Hb) analyses identified a new beta-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC > CAC) which results in the substitution of histidine for asparagine.
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收藏
页码：561 / 564
页数：4
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