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HBB gene

Discuss publications and research concerning the HBB gene.

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Related literature

[Phenotypic modification of β-Thalassemia by variants of SUPT5H gene: Report of two pedigrees and a literature review].
HBB
When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.
HBB
Compound Heterozygous Hemoglobin Minneapolis-Laos and Codon 41/42 (-TTCT) in a Thai Female Adult: A Case Report and Literature Review.
HBB
Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.
HBB
Utility of First-Line Diagnostic Tests and Molecular Methods for Accurate Characterization of Sickle Cell Disorders.
HBB
Gut microbiota remodeling in HBB-mutant cynomolgus monkeys reveals blood-gut axis disruption associated with β-thalassemia-related gastrointestinal dysfunction.
HBB
Molecular and Clinical Characterization of the Hb Tübingen [β106(G8) Leu→ Gln, HBB: c.320 T>A] Associated With Congenital Methemoglobinemia in a Chinese Family.
HBB
A Rare Case of De Novo α-Globin Cluster Duplication, ααα102 (NC_000016.10: G.79903_181947dup) in a β-Thalassemia IVS 1-1 (G>T) (HBB: C.92 + 1G>T) Carrier with Thalassemia Intermedia Phenotype.
HBB
First Case of Hb City of Hope (HBB: c.208G > A) in Andalusia. A Molecular Update of β-Thalassemia in Southwestern Spain (Huelva Province).
HBB
Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.
HBB

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