Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.

Suzuki, Shotaro

Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma. [electronic resource] - Life science alliance 02 2019

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

2575-1077

10.26508/lsa.201800284 doi


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