Associated Papers
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.
Kumar A et al.
Clinical and Experimental Dermatology, 2025
Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population.
Shehata NA et al.
Cureus, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
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
Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alharthi R et al.
Frontiers in Genetics, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
CRISPR-induced exon skipping is dependent on premature termination codon mutations.
Sui T et al.
Genome Biology, 2018
30333044 (PubMed )
Supplement: 13059_2018_1532_MOESM3_ESM.pdf
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
Yuen WY et al.
The British Journal of Dermatology, 2011
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Mühle C et al.
Human Genetics, 2005
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Nakano A et al.
Human Genetics, 2002
Laminins and human disease.
McGowan KA et al.
Microscopy Research and Technique, 2000
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
Kivirikko S et al.
Human Molecular Genetics, 1996
Select a paper to view details