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Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family.

Hemoglobin - 1 Jan 2017

Pernudy-Ubau Allan, Salinas-Molina Jaslyn, Requenez Yaneris, Ortiz-Lopez Marianela, Puller Ann-Christin, García-Rosales Kenia, Rodríguez-Estrada Anaishelle, Rodríguez-Romero Walter, Mejía-Baltodano Gerardo, Luo Hong-Yuan, Chui David H K

Abstract excerpt

Hemoglobin (Hb) is the protein responsible for oxygen transportation. It is a tetrameric protein comprising two α- and two β-globin subunits. In the literature, a large number of mutations in the α- and β-globin genes have been documented. Among these mutations, Hb Presbyterian (HBB: c.327 C>G), is a naturally occurring mutant exerting low oxygen affinity. The C to G exchange (AAC>AAG) at codon 108 of the...

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Identifiers

PMID: 28395541
DOI: 10.1080/03630269.2017.1302949

Genes

HBB

Variants

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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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