[Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy].

CNVPLUS-array not only can accurately determine the copy numbers of SMN1 and SMN2 genes, but also identify point mutations in SMN1 and [2+0] carriers, which has offered a new method for the genetic testing of SMA.

Authors

Yongguo Yu (ORCID: https://orcid.org/0000-0002-4472-0910)
Caiqin Guo
Danfeng Fang
Yi Liu (ORCID: https://orcid.org/0009-0006-6571-9499)
Tingting Yang (ORCID: https://orcid.org/0000-0002-6808-7590)

Institutions

XinHua Hospital (CN)

Publication Details

Journal: PubMed
Published: 2024-09-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20240320-00182
Primary Topic: Neurogenetic and Muscular Disorders Research
Type: article

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article

[Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy].

Yongguo Yu, Caiqin Guo, Danfeng Fang, Yi Liu et al.

Sep 10, 2024

PubMed

Neurogenetic and Muscular Disorders Research

article

[Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy].

Yongguo Yu, Caiqin Guo, Danfeng Fang, Yi Liu, Tingting Yang

September 10, 2024article en

Abstract

PubMedVol. 41(9)

XinHua Hospital (CN)

Neurogenetic and Muscular Disorders Research

DOI Source OpenAlex

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[Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy]. — Yongguo Yu, Caiqin Guo, et al. · PubMed (2024) | TGRS Research Map | TGRS