Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.P173_A175insFs
Back to variants list

KLF1

NM_006563.5:p.P173_A175insFs

Associated Papers

Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.

Singha K et al.

Journal of Clinical Pathology, 2024

Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.

Traisrisilp K et al.

Obstetric Medicine, 2024

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

Ye L et al.

Bmc Genomics, 2024

A 6-Year Follow-up of a Chinese Child with Homozygous β0-Thalaasemia and a Heterozygous KLF1 Mutation.

Wu SM et al.

Hemoglobin, 2024

Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.

Hantaweepant C et al.

Hematology (amsterdam, Netherlands), 2023

Identification of Lutheran Blood Groups and Genetic Variants within KLF1 among Thai Blood Donors.

Intharanut K et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2023

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.

Lou J et al.

International Journal of Laboratory Hematology, 2023

Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis.

Caria CA et al.

Cells, 2022

Hyperhaemolysis in a pregnant woman with a homozygous β0 -thalassemia mutation and two genetic modifiers.

Jiwu L et al.

Molecular Genetics & Genomic Medicine, 2021

A Krüppel-Like Factor 1 Gene Mutation Ameliorates the Severity of β-Thalassemia: A Case Report.

Xie XM et al.

Hemoglobin, 2019

A Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the SPTB Gene Misdiagnosed as β-Thalassemia Intermedia Due to a KLF1 Gene Mutation.

Yang K et al.

Hemoglobin, 2019

KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population.

Jiang F et al.

Hemoglobin, 2018

A KLF1 gene mutation causes β-thalassemia minor in a Chinese family.

Huang LY et al.

International Journal of Laboratory Hematology, 2018

δ-Thalassemia with Complete Absence of Hb A2 in a Chinese Family.

Tang HS et al.

Hemoglobin, 2018

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Shang X et al.

Ebiomedicine, 2017

28865746 (PubMed )
Supplement: mmc1.docx

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

Kawai M et al.

Transfusion, 2017

Validation of the multiplex ligation-dependent probe amplification assay and its application on the distribution study of the major alleles of 17 blood group systems in Chinese donors from Guangzhou.

Ji Y et al.

Transfusion, 2017

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations.

Yu LH et al.

Clinical Genetics, 2015

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

Waye JS et al.

International Journal of Laboratory Hematology, 2015

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Liu D et al.

Blood, 2014

A novel 519_525dup mutation of KLF1 gene identified in a Chinese blood donor with Lu(a-b-) phenotype.

Wang Z et al.

Transfusion, 2013

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

Helias V et al.

Human Mutation, 2013

KLF1 gene mutations in Chinese adults with increased fetal hemoglobin.

Wang T et al.

Hemoglobin, 2013

Blood group phenotypes resulting from mutations in erythroid transcription factors.

Singleton BK et al.

Current Opinion in Hematology, 2012

Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report.

Jiang H et al.

Hemoglobin, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."