Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Dystrophic epidermolysis bullosa characterized by mucosal lesions in a Chinese familial case with a novel compound heterozygous mutation of COL7A1.
Lan Q et al.
The Journal of Dermatology, 2024
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
A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa.
Cheng P et al.
Postepy Dermatologii I Alergologii, 2022
A novel pathogenic mutation in the COL7A1 gene resulting in mild autosomal dominant bullous dermolysis of the newborn.
Lor M et al.
Pediatric Dermatology, 2020
Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.
Shi BJ et al.
International Journal of Dermatology, 2015
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.
Nikolaev SI et al.
Cancer Research, 2012
23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC et al.
Journal of Medical Genetics, 2011
The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn.
Hashikawa K et al.
Journal of Dermatological Science, 2009
Novel COL7A1 mutations in a Japanese family with transient bullous dermolysis of the newborn associated with pseudosyndactyly.
Nakano H et al.
The British Journal of Dermatology, 2007
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976
Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.
Boccaletti V et al.
Pediatric Dermatology, 0
Self-improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family.
Tsai YC et al.
Wound Repair and Regeneration : Official Publication of the Wound Healing Society [and] the European Tissue Repair Society, 0
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