Associated Papers
New recessive dystrophic epidermolysis bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in the fibronectin III-like domain of type VII collagen.
Martynova AA et al.
The British Journal of Dermatology, 2025
Splicing Modulation via Antisense Oligonucleotides in Recessive Dystrophic Epidermolysis Bullosa.
Hainzl S et al.
International Journal of Molecular Sciences, 2024
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data.
Saxena D et al.
Prenatal Diagnosis, 2023
A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa.
Kocher T et al.
Molecular Therapy. Nucleic Acids, 2021
Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.
Beilin AK et al.
International Journal of Molecular Sciences, 2021
33670258 (PubMed )
Supplement: ijms-22-01792-s001.zip › ijms-1080037-proofed-supplementary › Supplementary_Results-edited.docx
Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.
Yenamandra VK et al.
Acta Dermato-venereologica, 2018
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
Takeichi T et al.
The British Journal of Dermatology, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
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