Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism
Author:
Publisher
Ferrata Storti Foundation (Haematologica)
Subject
Hematology
Cited by 10 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Novel Identification of Ankyrin-R in Cardiac Fibroblasts and a Potential Role in Heart Failure;International Journal of Molecular Sciences;2024-08-01
2. A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2023-01
3. Trio‐WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann‐Steiner syndrome: A case report;Molecular Genetics & Genomic Medicine;2020-12-15
4. Emerging therapeutic targets for neuroblastoma;Expert Opinion on Therapeutic Targets;2020-09-01
5. Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China;Frontiers in Genetics;2020-08-18
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