A novelLAMP2p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

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A novelLAMP2p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy

Published:2019-08-28 Issue:10 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Xu Jing¹²,Wang Lu²,Liu Xiangdong²,Dai Qiming³^ORCID

Affiliation:

1. Department of Clinical Laboratory, ZhongDa Hospital Southeast University Nanjing P. R. China

2. Institute of Life Science Southeast University Nanjing P. R. China

3. Department of Cardiology, ZhongDa Hospital Southeast University Nanjing P. R. China

Funder

Natural Science Foundation of Jiangsu Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.941

Reference28 articles.

1. A method and server for predicting damaging missense mutations

2. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review

3. Identification of deleterious mutations within three human genomes

4. Danon Disease

5. Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lysosome quality control in health and neurodegenerative diseases;Cellular & Molecular Biology Letters;2024-09-05

2. Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease;Molecular Genetics & Genomic Medicine;2023-06-08

3. Metabolic Maturation Exaggerates Abnormal Calcium Handling in a Lamp2 Knockout Human Pluripotent Stem Cell-Derived Cardiomyocyte Model of Danon Disease;Biomolecules;2022-12-29

4. New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation;Folia Medica;2022-10-31

5. Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease;Frontiers in Cardiovascular Medicine;2021-11-25

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