Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. [electronic resource]
- American journal of human genetics Oct 2013
- 758-64 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2013.08.010 doi
Adult Aged Aged, 80 and over Alleles Basic Helix-Loop-Helix Leucine Zipper Transcription Factors--genetics Carboxypeptidases--genetics Cell Line Codon, Nonsense Endothelium, Corneal--enzymology Female Fuchs' Endothelial Dystrophy--enzymology Genetic Loci Genome-Wide Association Study Glutamate Decarboxylase--genetics HEK293 Cells Humans Male Middle Aged Mutation, Missense Pedigree Protein Interaction Domains and Motifs--genetics Transcription Factor 4 Transcription Factors--genetics