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Article

The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.

American journal of human genetics - 1 Dec 1990

Beutler E, Kuhl W

Abstract excerpt

A polymorphic site exists in exon 11 of G6PD: in the wild-type enzyme, nucleotide (NT) 1311 is a C, but is some individuals from diverse populations a T is present instead. Nine of 54 X chromosomes from Europeans of mixed origins, nine of 41 X chromosomes of Ashkenazi Jewish subjects, three of 18 X chromosomes of Sicilians, five of 20 African X chromosomes, and nine of 20 Asian Indian X chromosomes had the mutant...

Topics

Animals
Asia
Base Sequence
Europe
Exons
Female
Genetic Variation
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Humans
Male
Mediterranean Sea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pan troglodytes

Polymorphism, Restriction Fragment Length

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 1978554
PMCID: PMC1683912

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1978554-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.PMID 1978554Read ↗

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