Clinical Exome Sequencing Reveals Novel Mutations in <i>SPTB</i> Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia-Reference-Cited by-同舟云学术

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Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia

Published:2024-06-04 Issue: Volume: Page:1-4
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Chiguer Amal¹²,Lyahyai Jaber¹,El kadiri Youssef¹²,Cherkaoui Jaouad Imane¹,Doubaj Yassamine²,Sefiani Abdelaziz¹²

Affiliation:

1. Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco

2. Department of Medical Genetics, National Institute of Health, Rabat, Morocco

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2024.2360456

Reference10 articles.

1. Hereditary spherocytosis

2. Mutational characteristics ofANK1andSPTBgenes in hereditary spherocytosis

3. Diagnosis and management of rare congenital nonimmune hemolytic disease

4. Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics

5. Disorders of red cell membrane

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