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Article

Investigation of mutations in the HBB gene using the 1,000 genomes database.

PloS one - 1 Jan 2017

Carlice-Dos-Reis Tânia, Viana Jaime, Moreira Fabiano Cordeiro, Cardoso Greice de Lemos, Guerreiro João, Santos Sidney, Ribeiro-Dos-Santos Ândrea

Abstract excerpt

Mutations in the HBB gene are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia. Sickle cell anemia is one of the most common monogenic diseases worldwide. Due to its prevalence, diverse strategies have been developed for a better understanding of its molecular mechanisms. In silico analysis has been increasingly used to investigate the genotype-phenotype...

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Identifiers

PMID: 28379995
DOI: 10.1371/journal.pone.0174637
PMCID: PMC5381778

Genes

HBB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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