Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). [electronic resource]
- Human molecular genetics Apr 2002
- 833-40 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/11.7.833 doi
Blood Vessels--pathology Chromosome Mapping Chromosomes, Human, Pair 1 DNA Mutational Analysis Extracellular Matrix Proteins--genetics Humans Lipoid Proteinosis of Urbach and Wiethe--genetics Mutation Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA South Africa