An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. [electronic resource]
- Human molecular genetics Sep 2003
- 2395-409 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/ddg234 doi
Chromosomes, Human, Pair 18 Chronic Disease Codon, Terminator Consanguinity DNA--genetics Epidermolysis Bullosa--genetics Exons Family Frameshift Mutation France--ethnology Genetic Linkage Granulation Tissue--pathology Haplotypes Homozygote Humans Keratinocytes--metabolism Laminin--chemistry Lod Score Pakistan Protein Biosynthesis Protein Isoforms--chemistry Protein Structure, Tertiary Syndrome United Kingdom--ethnology