Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome-Reference-Cited by-同舟云学术

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Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome

Published:2020-08-18 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Helle Ole Magnus Bjorgaas¹²,Pedersen Torkild Høieggen¹²,Ousager Lilian Bomme¹²,Thomassen Mads¹²,Hertz Jens Michael¹²^ORCID

Affiliation:

1. Department of Clinical Genetics Odense University Hospital Odense Denmark

2. Department of Clinical Research University of Southern Denmark Odense Denmark

Funder

Aase og Ejnar Danielsens Fond

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1452

Reference24 articles.

1. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

2. Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome

3. A genomic view of mosaicism and human disease

4. Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

5. The high spontaneous mutation rate: Is it a health risk?

Cited by 1 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. Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR;Frontiers in Medicine;2022-03-07

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