Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy-Reference-Cited by-同舟云学术

Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy

Published:2016-09-05 Issue:12 Volume:51 Page:1605-1608
ISSN:0268-3369
Container-title:Bone Marrow Transplantation
language:en
Short-container-title:Bone Marrow Transplant

Author:

Kim M,Park J,Lee J,Jang W,Chae H,Choi H,Kim J,Kwon A,Lee J-W,Cho B,Kim Y,Chung N-G

Publisher

Springer Science and Business Media LLC

Subject

Transplantation,Hematology

Link

http://www.nature.com/articles/bmt2016218.pdf

Reference15 articles.

1. Xue Y, Ankala A, Wilcox WR, Hegde MR . Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med 2015; 17: 444–451.

2. Smedley D, Jacobsen JO, Jager M, Kohler S, Holtgrewe M, Schubach M et al. Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc 2015; 10: 2004–2015.

3. Iolascon A, Heimpel H, Wahlin A, Tamary H . Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood 2013; 122: 2162–2166.

4. Beutler E, Gelbart T . Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood 2000; 95: 3585–3588.

5. Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol 2015; 90: 825–830.

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4. 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

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