通过大规模平行测序对一名12个月大男孩的X连锁铁粒幼细胞贫血进行突变分析。 - Suppr

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing.

作者信息

Yu Hui Jin, Lee Young Ju, Shim Jae Won, Kim Deok Soo, Shim Jung Yeon, Park Moon Soo, Woo Hee Yeon, Park Hyosoon, Jung Hye Lim, Kwon Min Jung

机构信息

Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2018 Jul;38(4):389-392. doi: 10.3343/alm.2018.38.4.389.

DOI:10.3343/alm.2018.38.4.389

PMID:29611395

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5895874/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efdd/5895874/4d083735ac8e/alm-38-389-g001.jpg

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本文引用的文献

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Ring sideroblasts and sideroblastic anemias.

Haematologica. 2011 Jun;96(6):789-92. doi: 10.3324/haematol.2011.044628.

Hereditary sideroblastic anemia: pathophysiology and gene mutations.

Int J Hematol. 2010 Oct;92(3):425-31. doi: 10.1007/s12185-010-0688-4. Epub 2010 Sep 17.

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110. Epub 2010 Jul 19.

Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.

Blood Cells Mol Dis. 2006 May-Jun;36(3):342-6. doi: 10.1016/j.bcmd.2006.01.010. Epub 2006 Mar 15.

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.

Blood. 2002 Dec 1;100(12):4236-8. doi: 10.1182/blood-2002-03-0685. Epub 2002 Aug 8.

The genetics of inherited sideroblastic anemias.

Semin Hematol. 2002 Oct;39(4):270-81. doi: 10.1053/shem.2002.35637.

X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.

Eur J Haematol. 1998 Jul;61(1):55-8. doi: 10.1111/j.1600-0609.1998.tb01061.x.

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

J Clin Invest. 1995 Oct;96(4):2090-6. doi: 10.1172/JCI118258.

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Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing.

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