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The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
- Source :
-
The Journal of investigative dermatology [J Invest Dermatol] 2014 Mar; Vol. 134 (3), pp. 845-849. Date of Electronic Publication: 2013 Sep 04. - Publication Year :
- 2014
- Subjects :
- Adolescent
Adult
Aged
Diagnosis, Differential
Female
Humans
Male
Middle Aged
Phenotype
Young Adult
Collagen Type XVII
Autoantigens genetics
Blister pathology
Epidermolysis Bullosa pathology
Epidermolysis Bullosa, Junctional genetics
Epidermolysis Bullosa, Junctional pathology
Mutation, Missense
Non-Fibrillar Collagens genetics
Periodontal Diseases pathology
Photosensitivity Disorders pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1523-1747
- Volume :
- 134
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- The Journal of investigative dermatology
- Publication Type :
- Report
- Accession number :
- 24005051
- Full Text :
- https://doi.org/10.1038/jid.2013.367