An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
McLean, W H Irwin
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
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