TY  - GEN
AU  - Lee,Ming-Yang
AU  - Wang,Hui-Jun
AU  - Han,Ying
AU  - Zhou,Yun
AU  - Zhao,Jia-Hui
AU  - Duo,Li-Na
AU  - Feng,Cheng
AU  - Hua,Hong
AU  - Liu,Hong-Wei
AU  - Lin,Zhi-Miao
AU  - Yang,Yong
TI  - Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA
SN  - 1651-2057
PY  - 2016///0127
KW  - China
KW  - Codon, Nonsense
KW  - Extracellular Matrix Proteins
KW  - genetics
KW  - Gene Deletion
KW  - Genetic Predisposition to Disease
KW  - Homozygote
KW  - Humans
KW  - Lipoid Proteinosis of Urbach and Wiethe
KW  - diagnosis
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Prognosis
KW  - RNA, Long Noncoding
KW  - Risk Assessment
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.2340/00015555-2036
ER  -