Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing
Author:
Affiliation:
1. Department of Dermatology, Faculty of Medicine and Graduate School of Medicine Hokkaido University Sapporo Japan
2. Division of Infection and Immunity, International Institute for Zoonosis Control Hokkaido University Sapporo Japan
Publisher
Hindawi Limited
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24331
Reference29 articles.
1. Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa
2. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation
3. Targeted nanopore sequencing with Cas9-guided adapter ligation
4. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
5. Revertant Mosaicism — Patchwork in the Skin
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1. Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing;Journal of the European Academy of Dermatology and Venereology;2024-03-11
2. Application of nanopore sequencing in identifying null mutations and intragenic copy number variations (CNVs) in FLG;Journal of Dermatological Science;2022-10
3. Stairways to Advanced Therapies for Epidermolysis Bullosa;Cold Spring Harbor Perspectives in Biology;2022-09-27
4. Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes;Biomedicines;2022-08-29
5. Cas9‐guided haplotyping of three truncation variants in autosomal recessive disease;Human Mutation;2022-04-28
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