Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency-Reference-Cited by-同舟云学术

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Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency

Published:2019-04-04 Issue:9 Volume:104 Page:e428-e431
ISSN:0390-6078
Container-title:Haematologica
language:en
Short-container-title:Haematologica

Author:

Bagla Shruti,Bhambhani Kanta,Gadgeel Manisha,Buck Steven,Jin Jian-Ping,Ravindranath Yaddanapudi

Publisher

Ferrata Storti Foundation (Haematologica)

Subject

Hematology

Cited by 8 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. PYK-SubstitutionOME: an integrated database containing allosteric coupling, ligand affinity and mutational, structural, pathological, bioinformatic and computational information about pyruvate kinase isozymes;Database;2023-01-01

2. Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency;Frontiers in Pediatrics;2022-12-01

3. Genetic variants of PKLR are associated with acute pain in sickle cell disease;Blood Advances;2022-06-13

4. Pyruvate kinase deficiency in children;Pediatric Blood & Cancer;2021-06-14

5. Pyruvate kinase deficiency: epidemiology, molecular analyses and modern diagnostic approaches (literature review);Russian Journal of Pediatric Hematology and Oncology;2020-07-04

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