Reply to: Is Gauchian genotyping of GBA1 variants reliable?
作者信息
Toffoli Marco, Schapira Anthony H V, Sedlazeck Fritz J, Proukakis Christos
机构信息
Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.
出版信息
Commun Biol. 2025 May 9;8(1):719. doi: 10.1038/s42003-025-08060-5.
Abstract
摘要
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本文引用的文献
1
Is Gauchian genotyping of GBA1 variants reliable?GBA1基因变异的戈谢病基因分型是否可靠？
Commun Biol. 2025 May 9;8(1):718. doi: 10.1038/s42003-025-08059-y.
2
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.精确的长读长测序在卢森堡帕金森病研究中确定GBA1为主要风险因素。
NPJ Parkinsons Dis. 2023 Nov 23;9(1):156. doi: 10.1038/s41531-023-00595-w.
3
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.全面的短读和长读测序分析用于戈谢病和帕金森病相关的 GBA 基因。
Commun Biol. 2022 Jul 6;5(1):670. doi: 10.1038/s42003-022-03610-7.
4
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.新西兰帕金森病队列中葡萄糖脑苷脂酶 (GBA) 基因的纳米孔测序。
Parkinsonism Relat Disord. 2020 Jan;70:36-41. doi: 10.1016/j.parkreldis.2019.11.022. Epub 2019 Nov 29.
5
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.使用牛津纳米孔MinION评估GBA错义突变和其他变异的检测
Mol Genet Genomic Med. 2019 Mar;7(3):e564. doi: 10.1002/mgg3.564. Epub 2019 Jan 13.
6
Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.尽管母亲的葡糖脑苷脂酶基因正常，但婴儿仍患2型戈谢病。
Am J Med Genet A. 2017 Dec;173(12):3211-3215. doi: 10.1002/ajmg.a.38487. Epub 2017 Nov 1.
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Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.2型戈谢病患者的体细胞镶嵌现象：对遗传咨询和治疗决策的影响
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