Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene

Autor:	Ana Villegas, Celina Benavente, Fernando A. González, Jaime Arbeteta, Paloma Ropero, Jorge M. Nieto, Beatriz González
Rok vydání:	2020
Předmět:	Adult Male Genotype Thalassemia Clinical Biochemistry Gene Expression Biology Severity of Illness Index alpha-Globins alpha-Thalassemia Transcription (biology) medicine Humans Hemoglobin A2 Codon Frameshift Mutation Gene Genetics (clinical) Genetics Anemia Hypochromic Messenger RNA Hemoglobin H Base Sequence Point mutation Biochemistry (medical) food and beverages Sequence Analysis DNA Hematology medicine.disease Phenotype Female
Zdroj:	Hemoglobin. 44:17-19
ISSN:	1532-432X 0363-0269
Popis:	About 10.0% of α-thalassemia (α-thal) cases are due to point mutations, small deletions, or insertions of one or more bases on the α genes that can alter mRNA processing at the transcription, translation, or post-translation level; these cases are called nondeletional α-thalassemias (α-thal). Most occur within the domain of the α2 gene without changes in the expression of the α1 gene. We present two new frameshift mutations on the
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b1a16564667ca895c85efe75601f698 https://doi.org/10.1080/03630269.2020.1721020 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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