A Second Observation of the Rare Frameshift Mutation in the β-Globin Gene: Codon 46 (+A) (Hbb:c.138_139insA)-Reference-Cited by-同舟云学术

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A Second Observation of the Rare Frameshift Mutation in the β-Globin Gene: Codon 46 (+A) (Hbb:c.138_139insA)

Published:2011-03-21 Issue:2 Volume:35 Page:157-161
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Ghedira Elyes Slim,Dupin-Deguine Delphine,Duffilot Denis,Lemetayer Nathalie,Faubert Emmanuelle,Pissard Serge

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

http://www.tandfonline.com/doi/pdf/10.3109/03630269.2011.557460

Reference9 articles.

1. β-Thalassemia

2. Laboratory Investigation of Hemoglobinopathies and Thalassemias: Review and Update

3. A New Insertion Mutation in the β-Globin Gene [Codons 45/46 (+A)] Resulting in a β-Thalassemia Minor Phenotype

4. International Committee for Standardization in Haematology: Recommended Methods for Red-Cell Enzyme Analysis

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1. Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program”;Journal of Epidemiology and Global Health;2024-07-29

2. β-Globin Genes: Mutation Hot-Spots in the Global Thalassemia Belt;Hemoglobin;2014-12-19

3. 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;International Journal of Laboratory Hematology;2012-03-12

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