Hb East Timor [β80(EF4)Asn→His, AAC> CAC (HBB c.241A>C)], a Variant Hemoglobin Associated with Normal Hematology.

Autor:	Finlayson, Jill, Ghassemifar, Reza, Holmes, Paula, Grey, Dianne, Figliomeni, Lisa, Newbound, Christopher, Pell, Nicole, Kersten, Michael, Jennens, Michelle, Macaulay, Claire, Greenwood, Laura, Beilby, John
Předmět:	AMINO acids ASPARAGINE HEMOGLOBINS GENETIC mutation GLOBIN genes PHENOTYPES HIGH performance liquid chromatography POLYMERASE chain reaction HEMATOLOGY
Zdroj:	Hemoglobin; Dec2010, Vol. 34 Issue 6, p561-564, 4p, 1 Chart, 1 Graph
Abstrakt:	Routine hemoglobin (Hb) analyses identified a new β-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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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