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A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.一种新型体细胞突变在一名患有哈钦森-吉尔福德早衰综合征的儿童中实现了部分挽救。
J Med Genet. 2017 Mar;54(3):212-216. doi: 10.1136/jmedgenet-2016-104295. Epub 2016 Dec 5.
2
A or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.黏脂贮积症III型γ型家族中的A或种系突变：对分子诊断和遗传咨询的意义。
Mol Genet Metab Rep. 2014 Feb 27;1:98-102. doi: 10.1016/j.ymgmr.2014.01.002. eCollection 2014.
3
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.通过二代测序诊断的继发于CACNA1C基因镶嵌突变的不完全性 Timothy 综合征。
Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21.
4
Parent-of-origin-specific signatures of de novo mutations.新生突变的亲本来源特异性特征。
Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20.
5
A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency.一名46 XY性发育障碍（DSD）且无肾上腺功能不全患者的类固醇生成因子（SF1/NR5A1）基因中的新型突变。
Andrologia. 2017 Feb;49(1). doi: 10.1111/and.12589. Epub 2016 May 2.
6
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.一名患有由致病性MYH3突变引起的弗里曼-谢尔登综合征女孩的表型正常父母中经分子学证实的嵌合体现象。
Am J Med Genet A. 2016 Jun;170(6):1608-12. doi: 10.1002/ajmg.a.37631. Epub 2016 Mar 21.
7
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.通过下一代测序技术检测和定量疾病基因中的镶嵌突变
J Mol Diagn. 2016 May;18(3):446-453. doi: 10.1016/j.jmoldx.2016.01.002. Epub 2016 Mar 2.
8
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.评估靶向重测序检测作为溶酶体贮积症诊断辅助工具的作用。
Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59.
9
Comparison of next-generation sequencing systems.新一代测序系统的比较。
J Biomed Biotechnol. 2012;2012:251364. doi: 10.1155/2012/251364. Epub 2012 Jul 5.
10
Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.用于检测嵌合突变的平行测序：与四种诊断性DNA筛查技术的比较
Hum Mutat. 2009 Jun;30(6):1012-20. doi: 10.1002/humu.20980.

Next-generation sequencing corroborates a probable variation previously detected by Sanger sequencing.

作者信息

Ludwig Nataniel Floriano, Sperb-Ludwig Fernanda, Velho Renata Voltolini, Schwartz Ida Vanessa D

机构信息

Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

BRAIN Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.

出版信息

Mol Genet Metab Rep. 2017 Mar 1;11:92-93. doi: 10.1016/j.ymgmr.2017.02.002. eCollection 2017 Jun.

DOI:10.1016/j.ymgmr.2017.02.002
PMID:28649512
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5470938/
Abstract
摘要