Molecular and Cellular Analysis of a Novel HBA2 Mutation (HBA2: c.94A>G) Shows Activation of a Cryptic Splice Site and Generation of a Premature Termination Codon

Talal QadahDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre NedlandsWestern Australia;School of Pathology and Laboratory Medicine, University of Western Australia NedlandsWestern Australia;Department of Medical Technology, Faculty of Applied Medical Sciences, King Abdulaziz University JeddahKingdom of Saudi Arabia

Jill FinlaysonDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre NedlandsWestern Australia;School of Pathology and Laboratory Medicine, University of Western Australia NedlandsWestern Australia

Philippe JolyUnité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot LyonFrance

Reza GhassemifarDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre NedlandsWestern Australia;School of Pathology and Laboratory Medicine, University of Western Australia NedlandsWestern Australia;School of Biomedical Sciences, Curtin University BentleyWestern AustraliaCorrespondence[email protected]

Molecular and Cellular Analysis of a Novel HBA2 Mutation (HBA2: c.94A>G) Shows Activation of a Cryptic Splice Site and Generation of a Premature Termination Codon

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Molecular and Cellular Analysis of a Novel HBA2 Mutation (HBA2: c.94A>G) Shows Activation of a Cryptic Splice Site and Generation of a Premature Termination Codon

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