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Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.
- Source :
- Australasian Journal of Dermatology; Nov2022, Vol. 63 Issue 4, pe365-e369, 5p, 1 Color Photograph, 2 Charts
- Publication Year :
- 2022
-
Abstract
- Identification of mutations in I LAMB3 i indicates that both had JEB, the rarest form of EB.4 For generalized EB caused by mutations in I LAMB3 i which account for 80% of all laminin-322 mutations, having at least one missense mutation tends to be associated with the less severe intermediate non-Herlitz type. Dear Editor, Epidermolysis bullosa (EB) is a group of heterogeneous disorders involving fragility of epithelial tissues. [Extracted from the article]
- Subjects :
- EPIDERMOLYSIS bullosa
ASIANS
GENETIC variation
Subjects
Details
- Language :
- English
- ISSN :
- 00048380
- Volume :
- 63
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Australasian Journal of Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 160149514
- Full Text :
- https://doi.org/10.1111/ajd.13918