Analysis of Two Translocation Breakpoints and Identifcation of a Negative Regulatory Element in Patients with Rieger's Syndrome

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 70, Issue 2, 2004, Pages 82-91

  Trembath, Dimitri G ^a,d   Semina, Elena V ^a,e   Jones, Douglas H ^a   Patil, Shivanand R ^a   Qian, Qining ^a   Amendt, Brad A ^b   Russo, Andrew F ^a   Murray, Jeffrey C ^a,c  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF TULSA   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Enhancer; Negative regulatory element; PITX2; Rieger's syndrome

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 11; CHROMOSOME 16; CHROMOSOME 4; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE SEQUENCE; GENE TRANSLOCATION; GENETIC ANALYSIS; HUMAN; MOLECULAR CLONING; PHENOTYPE; PITX2 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RIEGER SYNDROME; SILENCER ELEMENT;

ABNORMALITIES, MULTIPLE; CELLS, CULTURED; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 4; CLONING, MOLECULAR; CONTIG MAPPING; GENES, REPORTER; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYMERASE CHAIN REACTION; REGULATORY SEQUENCES, NUCLEIC ACID; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSFECTION; TRANSLOCATION, GENETIC;

EID: 1542366422     PISSN: 15420752     EISSN: None     Source Type: Journal    
DOI: 10.1002/bdra.10154     Document Type: Article

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