Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population-Reference-Cited by-同舟云学术

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population

Published:2023-03-09 Issue:5 Volume:102 Page:1029-1036
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

Dongerdiye Rashmi^ORCID,Bokde Meghana,More Tejashree Anil^ORCID,Saptarshi Arati^ORCID,Devendra Rati^ORCID,Chiddarwar Ashish^ORCID,Warang Prashant^ORCID,Kedar Prabhakar^ORCID

Funder

Indian Council of Medical Research

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00277-023-05152-2.pdf

Reference32 articles.

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3. Kanno H, Fujii H, Miwa S (1992) Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells. Biochem Biophys Res Commun 188:516–523

4. Grace RF, Bianchi P, Beers EJV, Eber SW, Glader B, Yaish HM et al (2018) Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood 131:2183–2192

5. Secrest MH, Storm M, Carrington C, Casso D, Gilroy K, Pladson L et al (2020) Prevalence of pyruvate kinase deficiency: a systematic literature review. Eur J Haematol 105:173–184

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