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Article

Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.

Human mutation - 1 Jan 2013

Helias Virginie, Saison Carole, Peyrard Thierry, Vera Eliane, Prehu Claude, Cartron Jean-Pierre, Arnaud Lionel

Abstract excerpt

KLF1 encodes an erythroid transcription factor, whose essential function in erythropoiesis has been demonstrated by extensive studies in mouse models. The first reported mutations in human KLF1 were found in individuals with a rare and asymptomatic blood type called In(Lu). Here, we show that KLF1 haploinsufficiency is responsible for the In(Lu) blood type, after redefining this peculiar blood type using flow...

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Share to Blood Group Antigens
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Hemoglobin

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Source

Identifiers

PMID: 23125034
DOI: 10.1002/humu.22218

Genes

KLF1
BCAM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.PMID 23125034Read ↗

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