Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. [electronic resource]
Producer: 20140219Description: 758-64 p. digitalISSN:- 1537-6605
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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