Lee, Ming-Yang

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