Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.

Riazuddin, S Amer

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