TY  - GEN
AU  - Suzuki,Shotaro
AU  - Nomura,Toshifumi
AU  - Miyauchi,Toshinari
AU  - Takeda,Masae
AU  - Fujita,Yasuyuki
AU  - Nishie,Wataru
AU  - Akiyama,Masashi
AU  - Ishida-Yamamoto,Akemi
AU  - Shimizu,Hiroshi
TI  - Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma
SN  - 2575-1077
PY  - 2020///0226
KW  - Age Factors
KW  - Amino Acid Sequence
KW  - genetics
KW  - Biopsy
KW  - Cell Proliferation
KW  - Cell Survival
KW  - Child
KW  - Female
KW  - Follow-Up Studies
KW  - Gain of Function Mutation
KW  - Genotype
KW  - HEK293 Cells
KW  - Humans
KW  - Keratinocytes
KW  - Male
KW  - Membrane Proteins
KW  - Middle Aged
KW  - Mosaicism
KW  - Mutagenesis, Insertional
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Rare Diseases
KW  - Skin Diseases, Genetic
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.26508/lsa.201800284
ER  -