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   Articles with "null phenotype" as a keyword



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A unique triadin exon deletion causing a null phenotype

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recommendations! Published in 2018 at "HeartRhythm Case Reports"

DOI: 10.1016/j.hrcr.2018.07.014

Abstract: Large deletions and duplications may be responsible for some of the cause of genetically elusive arrhythmia syndromes. Introduction Triadin is a transmembrane protein located in the sarcoplasmic reticulum; it interacts with both ryanodine (RYR2) and… read more here.

Keywords: unique triadin; deletion causing; triadin exon; null phenotype ... See more keywords

A novel SNV on a previously reported hybrid RHCE background is responsible for an Rh haplotype potentially involved in the generation of an Rh null phenotype

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recommendations! Published in 2022 at "Transfusion"

DOI: 10.1111/trf.17126

Abstract: More than 180 RHCE alleles have been reported so far including approximately 30 null variants. In some cases, when one RHCE null allele is present, an incorrect antigen zygosity is assumed, which may lead to… read more here.

Keywords: involved generation; haplotype potentially; null phenotype; potentially involved ... See more keywords

Multinational Assessment of Absolute Neutrophil Counts and White Blood Cell Counts Among Healthy Individuals with the Duffy Null Phenotype or Genotype

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recommendations! Published in 2024 at "Blood"

DOI: 10.1182/blood-2024-193592

Abstract: Introduction: The global variation in observed absolute neutrophil count (ANC) among healthy people is largely driven by the rs2814778 CC variant which results in the Duffy null phenotype. This variant results in lower circulating neutrophils,… read more here.

Keywords: anc; saudi arabia; reference; wbc ... See more keywords

Blood cell counts and the duffy null phenotype: Beyond neutropenia

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recommendations! Published in 2025 at "Blood"

DOI: 10.1182/blood-2025-2989

Abstract: Background: The absence of Duffy antigen expression on red blood cells, known as the Duffy null phenotype [Fy(a-b-)], results from a single nucleotide polymorphism in the DARC/ACKR1 gene and provides selective protection against malaria. This… read more here.

Keywords: neutrophil counts; cell; null phenotype; blood ... See more keywords