A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy-Reference-Cited by-同舟云学术

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A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

Published:2021-01-29 Issue:3 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Liu Jingwei¹^ORCID,Wang Kelai¹^ORCID,Li Baomin²^ORCID,Yang Xiaofan²³^ORCID

Affiliation:

1. Department of Pediatric Surgery Qilu Hospital of Shandong University Jinan Shandong China

2. Department of Pediatric Qilu Hospital of Shandong University Jinan Shandong China

3. Department of Genetics, School of Basic Medical Sciences Shandong University Jinan Shandong China

Funder

National Natural Science Foundation of China

Natural Science Foundation of Shandong Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1606

Reference26 articles.

1. Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

2. Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum

3. X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse

4. Uba1 functions in Atg7- and Atg3-independent autophagy

5. Non-5q spinal muscular atrophies: The alphanumeric soup thickens

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1. A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations;Journal of Clinical Laboratory Analysis;2022-07-12

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