| Autor: |
Demidova, Ekaterina, Salomashkina, Valentina, Selivanova, Daria, Litvin, Evgeny, Karamyan, Natalia, Mann, Svetlana, Dvirnyk, Valentina, Maryina, Salia, Petrova, Natal'ya, Gorgidze, Lana, Peredel'skaya, Anastasiya, Tsvetaeva, Nina, Smetanina, Nataliya, Surin, Vadim |
| Zdroj: |
Hemoglobin; Nov2023, Vol. 47 Issue 6, p97-101, 5p |
| Abstrakt: |
We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the β-globin gene (HBB): NM_000518:c.396delG. This variant causes an emergence of alternative amino acid sequence starting at codon 133 and a new stop codon formed in the 3′ untranslated region (3′UTR) of the HBB gene at amino acid position 158. This β-globin gene variant was identified in a woman with a long history of hemolytic anemia. We named this variant Hb Ryazan after the proband's city of origin. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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