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A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.
- Source :
-
The Journal of investigative dermatology [J Invest Dermatol] 2015 Nov; Vol. 135 (11), pp. 2876-2879. Date of Electronic Publication: 2015 Jun 17. - Publication Year :
- 2015
- Subjects :
- Adult
Child, Preschool
DNA Mutational Analysis
Female
Fluorescent Antibody Technique
Humans
Incidence
Male
Middle Aged
Polymerase Chain Reaction methods
Rare Diseases
Risk Assessment
Sampling Studies
Blister genetics
Blister physiopathology
Epidermolysis Bullosa genetics
Epidermolysis Bullosa physiopathology
Genetic Predisposition to Disease epidemiology
Membrane Proteins genetics
Mutation
Neoplasm Proteins genetics
Periodontal Diseases genetics
Periodontal Diseases physiopathology
Photosensitivity Disorders genetics
Photosensitivity Disorders physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1523-1747
- Volume :
- 135
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- The Journal of investigative dermatology
- Publication Type :
- Report
- Accession number :
- 26083552
- Full Text :
- https://doi.org/10.1038/jid.2015.227