Nonsense β-thalassemia mutation at codon 37 (TGGTGA), detected for the first time in three Turkish cases

Autor:	Ozge Ozalp Yuregir, Cagatay Unsal, Muhammed Hamza Müslümanoğlu, Sevcan Tug Bozdogan, Hakan Erkman, Ahmet Genc, Huseyin Aslan
Rok vydání:	2012
Předmět:	Adult Male congenital hereditary and neonatal diseases and abnormalities Turkey media_common.quotation_subject Clinical Biochemistry Nonsense mutation Nonsense DNA Mutational Analysis beta-Globins Gene mutation Biology Compound heterozygosity hemic and lymphatic diseases medicine Missense mutation Humans Globin Codon Genetics (clinical) media_common Genetics Base Sequence Biochemistry (medical) beta-Thalassemia Beta thalassemia Hematology medicine.disease Molecular biology Codon Nonsense Child Preschool Mutation (genetic algorithm) Female
Zdroj:	Hemoglobin. 36(3)
ISSN:	1532-432X
Popis:	Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9571984bde57786e6c3863bd8e58d856 https://pubmed.ncbi.nlm.nih.gov/22385009 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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