TY  - GEN
AU  - Riazuddin,S Amer
AU  - Vasanth,Shivakumar
AU  - Katsanis,Nicholas
AU  - Gottsch,John D
TI  - Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4
SN  - 1537-6605
PY  - 2014///0219
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Alleles
KW  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
KW  - genetics
KW  - Carboxypeptidases
KW  - Cell Line
KW  - Codon, Nonsense
KW  - Endothelium, Corneal
KW  - enzymology
KW  - Female
KW  - Fuchs' Endothelial Dystrophy
KW  - Genetic Loci
KW  - Genome-Wide Association Study
KW  - Glutamate Decarboxylase
KW  - HEK293 Cells
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Pedigree
KW  - Protein Interaction Domains and Motifs
KW  - Transcription Factor 4
KW  - Transcription Factors
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2013.08.010
ER  -