Turk J Hematol. 2022; 39(1): 70-71 | DOI: 10.4274/tjh.galenos.2021.2021.0449

Genetic and Epigenetic Factors Co-Influence the Severity of Phenotypic Presentations in Compound G6PD Mutations

Yee Yik Mot¹, Jay Suriar Rajasuriar², Hafizuddin Mohamed Fauzi³, Emmanuel Jairaj Moses³, Narazah Mohd Yusoff^3
1Regenerative Medicine Sciences Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Penang, Malaysia
²Department of Medicine, Gleneagles Hospital Kuala Lumpur, Kuala Lumpur, Malaysia
³Clinical Genetics Unit, Advanced Diagnostics Laboratory, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Penang, Malaysia

Keywords: Next-generation sequencing, Compound G6PD mutations, X-inactivation, Chronic anemia

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Genetik ve Epigenetik Faktörler Bileşik G6PD Mutasyonlarında Fenotipik Sunumların Ağırlığını Birlikte Etkilerler

Yee Yik Mot¹, Jay Suriar Rajasuriar², Hafizuddin Mohamed Fauzi³, Emmanuel Jairaj Moses³, Narazah Mohd Yusoff^3
1Regenerative Medicine Sciences Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Penang, Malaysia
²Department of Medicine, Gleneagles Hospital Kuala Lumpur, Kuala Lumpur, Malaysia
³Clinical Genetics Unit, Advanced Diagnostics Laboratory, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Penang, Malaysia

Anahtar Kelimeler: Yeni nesil sekanslama, Bileşik G6PD mutasyonları, X-inaktivasyonu, Kronik anemi

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