Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma. [electronic resource]
Producer: 20200226ISSN:- 2575-1077
- Age Factors
- Amino Acid Sequence -- genetics
- Biopsy
- Cell Proliferation
- Cell Survival
- Child
- Female
- Follow-Up Studies
- Gain of Function Mutation
- Genotype
- HEK293 Cells
- Humans
- Keratinocytes
- Male
- Membrane Proteins -- genetics
- Middle Aged
- Mosaicism
- Mutagenesis, Insertional
- Pedigree
- Polymorphism, Single Nucleotide -- genetics
- Rare Diseases -- genetics
- Skin Diseases, Genetic -- genetics
- Transfection
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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