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Accession: PRJNA335716 ID: 335716

Homo sapiens (human)

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

See Genome Information for Homo sapiens
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. More...
AccessionPRJNA335716; GEO: GSE84940
Data TypeVariation
ScopeMultiisolate
OrganismHomo sapiens[Taxonomy ID: 9606]
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
PublicationsChung DD et al., "Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.", PLoS One, 2017;12(1):e0169215
Grants
  • "Identification and Characterization of the Genetic Basis of PPCD" (Grant ID R01 EY022082, NIH National Eye Institute)
SubmissionRegistration date: 28-Jul-2016
Cornea Genetics Laboratory, Ophthalmology, Stein Eye Institute, UCLA
RelevanceMedical
Project Data:
Resource NameNumber
of Links
Publications
PubMed1
PMC1
Other datasets
GEO DataSets1
GEO Data Details
ParameterValue
Data volume, Spots440576
Data volume, Processed Mbytes12
Data volume, Supplementary Mbytes142

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