Search results for "USH2A"

showing 2 items of 2 documents

Allelic age of the USH2A c.2299delG mutation

2010

24 p., figuras y bibliografía

Gene isoformUsher syndromePopulationc.2299delGSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticleLinkage DisequilibriumWhite PeopleExonUSH2Aotorhinolaryngologic diseasesGeneticsmedicineHaplotypeHumansAlleleeducationGeneAllelesPhylogenyGenetics (clinical)GeneticsExtracellular Matrix Proteinseducation.field_of_studyHaplotypemedicine.diseaseHaplotypesMutationDatingUsher Syndromes
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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

2011

Abstract Background Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. Methods To identify the genetic cause of the disease and determine the frequency of USH2A mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing. Results As a result, a total of 144 DNA sequence variants were identified.…

AdultMaleSequence VariantsAdolescentGenotypegenetic structuresUsher syndromeDNA Mutational AnalysisMutation Missenselcsh:MedicineBiologymedicine.disease_causeExonYoung AdultUSH2ARetinitis pigmentosaGenotypemedicineotorhinolaryngologic diseasesHumansGenetics(clinical)Pharmacology (medical)<it>USH2A</it>GeneAllele frequencyGenetics (clinical)GeneticsMedicine(all)MutationExtracellular Matrix ProteinsResearchlcsh:RGeneral MedicineExonsMiddle Agedmedicine.diseaseeye diseasesPhenotypeSpainMutationFemalesense organsUsher SyndromeUsher SyndromesMutationsMinigeneOrphanet Journal of Rare Diseases
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