Associated Papers
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Zaninetti C et al.
British Journal of Haematology, 2024
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
Karastaneva A et al.
Journal of Medical Genetics, 2020
Interleukin-10 polymorphisms were not associated with lung function at age 11-13 years after infant bronchiolitis.
Holster A et al.
Acta Paediatrica (oslo, Norway : 1992), 2020
Modification to reporting of qualitative fluorescent spot test results improves detection of glucose-6-phosphate dehydrogenase (G6PD)-deficient heterozygote female newborns.
Nadarajan V et al.
International Journal of Laboratory Hematology, 2011
Five different glucose-6-phophate [correction phosphate]dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia.
Matsuoka H et al.
Journal of Human Genetics, 2003
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