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Items: 2

1.

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
Series
Accession:
GSE84940
ID:
200084940
2.

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...
Organism:
Homo sapiens
1 Related Platform
Download data: TXT
Platform
Accession:
GPL22252
ID:
100022252

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