GEO DataSet Links for PMC (Select 5207508) - GEO DataSets

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Items: 2

Select item 2000849401.

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

(Submitter supplied) Purpose: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1 coding region mutations. Methods: The promoter and/or coding regions of OVOL2 were screened in the PPCD family in which linkage analysis established the PPCD1 locus and in 26 PPCD probands who did not harbor a ZEB1 mutation. Copy number variation (CNV) analysis in the PPCD1 and PPCD3 intervals was performed on DNA samples from eight probands using aCGH. more...

Organism:: Homo sapiens

Type:: Genome variation profiling by genome tiling array

Platform:: GPL22253
8 Samples

Download data: TXT

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Accession:: GSE84940

ID:: 200084940

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 1000222522.

Agilent-079141 PPCD1-3_loci G4126A 8X60 array (Feature number version)

(Submitter supplied) Agilent-079141 PPCD1-3_loci G4126A Array design is based on genome build hg19/GRCh37. Arrays of this design have barcodes that begin with 16079141 or 2579141 Orientation: Features are numbered numbered Left-to-Right, Top-to-Bottom as scanned by an Agilent scanner (barcode on the left, DNA on the back surface, scanned through the glass), matching the FeatureNum output from Agilent's Feature Extraction software. more...