Cargando…

Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS

Hereditary spherocytosis (HS) is an inherited heterogeneous hemolytic anemia, characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, and the clinical manifestation ranges from asymptomatic to severely anemic, and transfusion-dependent patients. Mutations in at...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Xiong, Yi, Bin, Mu, Ketao, Shen, Na, Zhu, Yaowu, Hu, Qun, Lu, Yanjun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals LLC 2017
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722523/ https://www.ncbi.nlm.nih.gov/pubmed/29228571 http://dx.doi.org/10.18632/oncotarget.18243

Ejemplares similares

An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis
por: Wang, Xiong, et al.
Publicado: (2017)

Two novel ANK1 loss‐of‐function mutations in Chinese families with hereditary spherocytosis
por: Hao, Lili, et al.
Publicado: (2019)

A de novo ANK1 mutation associated to hereditary spherocytosis: a case report
por: Huang, Ti-Long, et al.
Publicado: (2019)

A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report
por: Wang, Yafeng, et al.
Publicado: (2023)

Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report
por: Fu, Pan, et al.
Publicado: (2022)

Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report
por: Zhu, Xiaoning, et al.
Publicado: (2022)

Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report
por: Chai, Senmao, et al.
Publicado: (2020)

De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing
por: Wang, Yang, et al.
Publicado: (2023)

Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS
por: Zhang, Qinghua, et al.
Publicado: (2022)

Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis
por: Kang, Meiyun, et al.
Publicado: (2023)

Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis
por: Han, Joo Hyung, et al.
Publicado: (2015)

Hereditary Spherocytosis
por: Huq, Sayeeda, et al.
Publicado: (2010)

Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China
por: Wang, Xiong, et al.
Publicado: (2020)

Hereditary spherocytosis and allied disorders
por: Russo, Roberta, et al.
Publicado: (2019)

Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children
por: Wu, Chongjun, et al.
Publicado: (2021)

Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family
por: Shin, Soyoung, et al.
Publicado: (2018)

Extramedullary paraspinal hematopoiesis in hereditary spherocytosis
por: Gogia, P., et al.
Publicado: (2008)

Hereditary spherocytosis: Consequences of delayed diagnosis
por: Steward, Sarah C, et al.
Publicado: (2014)

Paravertebral pseudotumor in patient with hereditary spherocytosis
por: Rabelo, Lêda Maria, et al.
Publicado: (2016)

Genotype-degree of hemolysis correlation in hereditary spherocytosis
por: Shi, Yimeng, et al.
Publicado: (2023)

Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice
por: Wang, Xiong, et al.
Publicado: (2019)

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis
por: van Vuren, Annelies, et al.
Publicado: (2019)

Subtotal Splenectomy in Hereditary Spherocytosis - Advantages and Disadvantages
por: BICĂ, C., et al.
Publicado: (2016)

The Spectrum of SPTA1-Associated Hereditary Spherocytosis
por: Chonat, Satheesh, et al.
Publicado: (2019)

The diagnostic protocol for hereditary spherocytosis‐2021 update
por: Wu, Yangyang, et al.
Publicado: (2021)

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4
por: Wang, Xiong, et al.
Publicado: (2017)

A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review
por: Li, Jie, et al.
Publicado: (2022)

A case of concomitant Gilbert's syndrome and hereditary spherocytosis
por: Lee, Hee Jung, et al.
Publicado: (2010)

α-thalassaemia combined with hereditary spherocytosis in the same patient
por: Li, Xiaohong, et al.
Publicado: (2018)

Blood cell parameters for screening and diagnosis of hereditary spherocytosis
por: Liao, Lin, et al.
Publicado: (2019)

Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis
por: Chonat, Satheesh, et al.
Publicado: (2019)

Hereditary Spherocytosis as an Atypical Presentation of Anemia in Ulcerative Colitis
por: Cho, Moo, et al.
Publicado: (2021)

Transcatheter Closing Atrial Septal Defect in a Child With Hereditary Spherocytosis
por: Ji, Zhixian, et al.
Publicado: (2019)

Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature
por: Xie, Lichun, et al.
Publicado: (2021)

Transient aplastic crisis triggered by parvovirus B19 in a family with hereditary spherocytosis
por: Cilla, Nicolas, et al.
Publicado: (2020)

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis
por: Xie, Fei, et al.
Publicado: (2021)

Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report
por: Wang, Jun-Fang, et al.
Publicado: (2021)

Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB
por: Tian, Yafei, et al.
Publicado: (2023)

Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis.
por: Lee, Y. K., et al.
Publicado: (2000)

Anaesthetic management of a case of hereditary spherocytosis for splenectomy and cholecystectomy
por: Chaithanya, Krishna, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_vvjvh7ap1hmm8c80d65mstcijd