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

American Journal of Human Genetics

Volumn 93, Issue 4, 2013, Pages 758-764

  Riazuddin, S Amer ^a   Vasanth, Shivakumar ^b   Katsanis, Nicholas ^b   Gottsch, John D ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b DUKE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMATE DECARBOXYLASE;

ADULT; AGED; ARTICLE; CHROMOSOME 15Q; CHROMOSOME 3P; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA ENDOTHELIUM; FEMALE; FUCHS CORNEAL DYSTROPHY; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; NONSENSE MUTATION; PEDIGREE; PREMATURITY; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SERIAL ANALYSIS OF GENE EXPRESSION; WILD TYPE;

EID: 84885191402     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.08.010     Document Type: Article

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