Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

American Journal of Human Genetics

Volumn 77, Issue 5, 2005, Pages 694-708

  Krafchak, Charles M ^a,b   Pawar, Hemant ^a   Moroi, Sayoko E ^a   Sugar, Alan ^a   Lichter, Paul R ^a   Mackey, David A ^c,d   Mian, Shahzad ^a   Nairus, Theresa ^a   Elner, Victor ^a   Schteingart, Miriam T ^e   Downs, Catherine A ^a,b   Kijek, Theresa Guckian ^a   Johnson, Jenae M ^a   Trager, Edward H ^a   Rozsa, Frank W ^a   Mandal, Nawajes Ali ^a   Epstein, Michael P ^f   Vollrath, Douglas ^g   Ayyagari, Radha ^a   Boehnke, Michael ^b   Richards, Julia E ^a,b   more..

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF TASMANIA   (Australia)

^e Andersen Eye Center   (United States)

^f EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 8; COMPLEMENTARY DNA; GENOMIC DNA; HOMEODOMAIN PROTEIN; RNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TCF8; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADULT; AGED; ALLELE; ALPORT SYNDROME; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DISEASE; CORNEA DYSTROPHY; CORNEA ENDOTHELIUM; DNA SYNTHESIS; ENDOTHELIUM CELL; FAMILY STUDY; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PRIORITY JOURNAL;

EID: 27244444742     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/497348     Document Type: Article

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