Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA. [electronic resource]
- Acta dermato-venereologica May 2015
- 608-10 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1651-2057
10.2340/00015555-2036 doi
China Codon, Nonsense Extracellular Matrix Proteins--genetics Gene Deletion Genetic Predisposition to Disease Homozygote Humans Lipoid Proteinosis of Urbach and Wiethe--diagnosis Male Mutation, Missense Pedigree Prognosis RNA, Long Noncoding--genetics Risk Assessment Young Adult