Two different mutations in codon 97 of the β-globin gene cause Hb Malmö in Sweden

Autor:	Kristina Wallman, Stig Berglund, Britta Landin
Rok vydání:	1996
Předmět:	Genetics Hemolytic anemia Point mutation Hemoglobin variants Hematology Biology medicine.disease Molecular biology Abnormal hemoglobin chemistry.chemical_compound Hemoglobinopathy chemistry medicine Globin Gene DNA
Zdroj:	American Journal of Hematology. 51:32-36
ISSN:	1096-8652 0361-8609
Popis:	An abnormal hemoglobin with increased oxygen affinity, Hb Malmo [α2β297(FG4)HisGln], was found to cause erythrocytosis in two apparently unrelated Swedish families. Direct nucleotide sequencing of amplified DNA demonstrated a CACCAA substitution in one family and a CACCAG substitution in the other. Both mutations resulted in a HisGln substitution in codon 97. This finding prompted us to examine the possible point mutations underlying the different hemoglobin variants reported in the literature. © 1996 Wiley-Liss, Inc.
Databáze:	OpenAIRE
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