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Article

Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype.

Transfusion - 1 Apr 2017

Kawai Miho, Obara Kumi, Onodera Takayuki, Enomoto Takayuki, Ogasawara Kenichi, Tsuneyama Hatsue, Uchikawa Makoto, Inaba Shoichi

Abstract excerpt

BACKGROUND: In(Lu) is characterized by a reduced expression of antigens in the Lutheran blood group system as well as other blood group antigens. Mutations of the erythroid transcription factor, KLF1, have been reported to cause the In(Lu) phenotype, and we investigated Japanese In(Lu) to estimate the prevalence of the phenotype and KLF1 polymorphism. STUDY DESIGN AND METHODS: Blood samples were screened by...

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Source

Identifiers

PMID: 28194794
DOI: 10.1111/trf.13990

Genes

KLF1

Variants

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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Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype.PMID 28194794Read ↗

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Blood group phenotypes resulting from mutations in erythroid transcription factors.Semantic proximity Read ↗

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.Semantic proximity Read ↗

Identification of new KLF1 and LU alleles during the resolution of Lutheran typing discrepancies.Semantic proximity Read ↗

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