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Article

Nonsense mutation of β-globin gene at codon 82 (AAG→TAG) or HBB:C247 A→T with polymorphism: cause of thalassemia intermedia?

International journal of laboratory hematology - 1 Apr 2011

Kumar R, Agarwal S

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21054815
DOI: 10.1111/j.1751-553X.2010.01273.x

Genes

HBB

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Related research

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Nonsense mutation of β-globin gene at codon 82 (AAG→TAG) or HBB:C247 A→T with polymorphism: cause of thalassemia intermedia?PMID 21054815Read ↗

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Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation.Semantic proximity Read ↗

Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.Semantic proximity Read ↗

[Gene Diagnosis and Phenotypic Analysis of β-Thalassemia Caused from a Rare Synonymous Mutation CD29 (C>T)].Semantic proximity Read ↗

A mutation of CDS 82/83 (-G) observed in a Yugoslavian family with a heterozygosity for beta-thalassemia.Semantic proximity Read ↗

Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).Semantic proximity Read ↗

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