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Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs25

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

Hemoglobin, 2023-11, Vol.47 (2), p.97-101 [Periódico revisado por pares]

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Título:
Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs25
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
Assuntos: Anemia, Hemolytic - genetics ; beta-Globins - chemistry ; beta-Globins - genetics ; Codon, Terminator ; Exons ; Female ; Frameshift Mutation ; Hemoglobins, Abnormal - chemistry ; Hemoglobins, Abnormal - genetics ; Humans ; Mutation
É parte de: Hemoglobin, 2023-11, Vol.47 (2), p.97-101
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
Descrição: We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the β-globin gene ( ): 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 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.
Editor: England
Idioma: Inglês

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