Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Oral Manifestations in Different Subtypes of Hereditary Epidermolysis Bullosa: A Retrospective Case Series From an Asian Cohort.
Li ML et al.
Oral Diseases, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
Wen D et al.
The Journal of Investigative Dermatology, 2024
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT et al.
Orphanet Journal of Rare Diseases, 2022
36578049 (PubMed )
Supplement: 13023_2022_2605_MOESM3_ESM.docx
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report.
Wang W et al.
Frontiers in Genetics, 2022
Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations.
Hou PC et al.
Acta Dermato-venereologica, 2021
Topical gentamicin ointment induces LAMB3 nonsense mutation readthrough and improves corneal erosions in a patient with junctional epidermolysis bullosa.
Hung JH et al.
Clinical & Experimental Ophthalmology, 2021
Successful renal transplant in a patient with non-Herlitz junctional epidermolysis bullosa.
Ungureanu S et al.
Clinical and Experimental Dermatology, 2014
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