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Identification of a novel KLF1 gene promoter variation (c.-251C > G) in a Thai blood donor with In(Lu) phenotype.

Transfusion - 1 Jun 2023

Intharanut Kamphon, Nathalang Oytip

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PMID: 37060283
DOI: 10.1111/trf.17368

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Identification of a novel KLF1 gene promoter variation (c.-251C > G) in a Thai blood donor with In(Lu) phenotype.PMID 37060283Read ↗

An insertion/deletion polymorphism in the KLF1 gene resulting in an In(Lu) phenotype.Semantic proximity Read ↗

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

Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.Semantic proximity Read ↗

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

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.Semantic proximity Read ↗

Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.Semantic proximity Read ↗

A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P1 k phenotype.Semantic proximity Read ↗

Genetic Variants Within the Erythroid Transcription Factor, KLF1, and Reduction of the Expression of Lutheran and Other Blood Group Antigens: Review of the In(Lu) PhenotypeSemantic proximity Read ↗

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