Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum-Reference-Cited by-同舟云学术

Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum

Published:2023-01-04 Issue:2 Volume:298 Page:427-439
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

More Tejashree Anil^ORCID,Devendra Rati^ORCID,Dongerdiye Rashmi^ORCID,Warang Prashant^ORCID,Kedar Prabhakar^ORCID

Funder

Indian Council of Medical Research

DST

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00438-022-01984-1.pdf

Reference52 articles.

1. Agarwal AM (2019) Ankyrin mutations in hereditary spherocytosis. Acta Haematol 141:63–64. https://doi.org/10.1159/000495339

2. Agarwal AM, Nussenzveig RH, Reading NS, Patel JL, Sangle N, Salama ME, Prchal JT, Perkins SL, Yaish HM, Christensen RD (2016) Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias. Br J Haematol 174:806–814. https://doi.org/10.1111/bjh.14131

3. Aggarwal A, Jamwal M, Sharma P, Sachdeva MUS, Bansal D, Malhotra P, Das R (2020) Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: first South Asian study. Br J Haematol 188:784–795. https://doi.org/10.1111/bjh.16244

4. Andolfo I, Martone S, Rosato BE, Marra R, Gambale A, Forni GL, Pinto V, Göransson M, Papadopoulou V, Gavillet M, Elalfy M, Panarelli A, Tomaiuolo G, Iolascon A, Russo R (2021) Complex modes of inheritance in hereditary red blood cell disorders: a case series study of 155 patients. Genes (basel) 12:958. https://doi.org/10.3390/genes12070958

5. Bain BJ, Bates I, Laffan MA, Lewis SM (2012) Dacie and Lewis practical haematology, 11th edn. Elsevier Churchill Livingstone, London, UK