Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.

Owaidah, Tarek; Bakr, Salwa; Al-Numair, Nouf; AbaAlkhail, Hala; Alzahrani, Hazzaa; Saleh, Mahasen; Khogeer, Haitham; Tarawah, Ahmed; Akkad, Hadeel; Al-Allaf, Faisal

Owaidah, Tarek; Bakr, Salwa; Al-Numair, Nouf; AbaAlkhail, Hala; Alzahrani, Hazzaa; Saleh, Mahasen; Khogeer, Haitham; Tarawah, Ahmed; Akkad, Hadeel; Al-Allaf, Faisal.

Afiliação

Owaidah T; Department of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Bakr S; Department of Clinical Pathology/Hematology, Faculty of Medicine, Fayoum University, Fayoum, Egypt.
Al-Numair N; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
AbaAlkhail H; Department of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alzahrani H; Department of Adult Hematology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Saleh M; Department of Pediatric Hematology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khogeer H; Department of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Tarawah A; Madinah Hereditary Blood Disorders Center, Department of Pediatric Hematology, King Salman Medical City, Madinah, Saudi Arabia.
Akkad H; Department of Hematology, National Blood Center, Riyadh, Saudi Arabia.
Al-Allaf F; Department of Medical Genetics, Umm Al-Qura University Faculty of Medicine, Makkah, Saudi Arabia.

Clin Appl Thromb Hemost ; 29: 10760296231182410, 2023.

Article em En | MEDLINE | ID: mdl-37525882

Assuntos

Hemofilia A; Hemofilia B; Humanos; Hemofilia A/diagnóstico; Hemofilia A/genética; Fator VIII/genética; Hemofilia B/genética; Mutação de Sentido Incorreto; Genótipo; Mutação

Palavras-chave

F8 gene; c.5816-2A > G; g.164496G > A; hemophilia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemofilia B / Hemofilia A Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemofilia B / Hemofilia A Idioma: En Ano de publicação: 2023 Tipo de documento: Article