A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pul...
A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pulmonary Disease
About this item
Full title
Author / Creator
Publisher
United States: Am Thoracic Soc
Journal title
Language
English
Formats
Publication information
Publisher
United States: Am Thoracic Soc
Subjects
More information
Scope and Contents
Contents
We describe a novel variant in the terminal exon of human elastin, c.2318 G > A, resulting in an amino acid substitution of glycine 773 to aspartate (G773D) in a pedigree with severe early-onset chronic obstructive pulmonary disease (COPD). Transfection studies with elastin cDNAs demonstrate that the glycine to aspartate change compromises the abil...
Alternative Titles
Full title
A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pulmonary Disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2715343
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2715343
Other Identifiers
ISSN
1044-1549
E-ISSN
1535-4989
DOI
10.1165/rcmb.2005-0206OC
