TY  - GEN
AU  - Fujiwara,Takayuki
AU  - Takeda,Norifumi
AU  - Hara,Hironori
AU  - Morita,Hiroyuki
AU  - Kishihara,Jun
AU  - Inuzuka,Ryo
AU  - Yagi,Hiroki
AU  - Maemura,Sonoko
AU  - Toko,Haruhiro
AU  - Harada,Mutsuo
AU  - Ikeda,Yuichi
AU  - Kumagai,Hidetoshi
AU  - Nomura,Seitaro
AU  - Takimoto,Eiki
AU  - Akazawa,Hiroshi
AU  - Ako,Junya
AU  - Komuro,Issei
TI  - Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma
SN  - 1476-5438
PY  - 2019///0228
KW  - Alternative Splicing
KW  - Carcinoma
KW  - genetics
KW  - Exons
KW  - Female
KW  - HEK293 Cells
KW  - Humans
KW  - Keratoacanthoma
KW  - Loeys-Dietz Syndrome
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Pedigree
KW  - Receptor, Transforming Growth Factor-beta Type I
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41431-018-0127-1
ER  -