Matches in SemOpenAlex for { <https://semopenalex.org/work/W1966579539> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W1966579539 endingPage "546" @default.
- W1966579539 startingPage "545" @default.
- W1966579539 abstract "We have investigated the prevalence of mutations in the connexin 26 (GJB2) gene in Omani population using both PCR-RFLP and direct DNA sequencing methods. Two common GJB2 gene mutations (35delG and 167delT) were screened in 280 healthy controls and 95 deaf patients using two different PCR-RFLP methods. To investigate other GJB2 mutations, we have amplified and sequenced DNA from 51 unrelated deaf patients and 17 control subjects. None of the samples studied, either by RFLP or sequencing, revealed any deafness-associated mutations in the coding region of the GJB2 gene. These findings disagree with many reports on the GJB2 gene, describing various mutations as the cause of congenital recessive deafness. Although, an amino acid substitution (S86T) was identified by sequencing, we conclude that this change could not be associated with deafness since it was present in all the control and patient samples sequenced. © 2001 Wiley-Liss, Inc." @default.
- W1966579539 created "2016-06-24" @default.
- W1966579539 creator A5002789634 @default.
- W1966579539 creator A5003467166 @default.
- W1966579539 creator A5004415918 @default.
- W1966579539 creator A5010356698 @default.
- W1966579539 creator A5017913426 @default.
- W1966579539 creator A5018159372 @default.
- W1966579539 creator A5018493266 @default.
- W1966579539 creator A5060588080 @default.
- W1966579539 date "2001-01-01" @default.
- W1966579539 modified "2023-10-17" @default.
- W1966579539 title "Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population" @default.
- W1966579539 doi "https://doi.org/10.1002/humu.1233" @default.
- W1966579539 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11748849" @default.
- W1966579539 hasPublicationYear "2001" @default.
- W1966579539 type Work @default.
- W1966579539 sameAs 1966579539 @default.
- W1966579539 citedByCount "47" @default.
- W1966579539 countsByYear W19665795392012 @default.
- W1966579539 countsByYear W19665795392013 @default.
- W1966579539 countsByYear W19665795392014 @default.
- W1966579539 countsByYear W19665795392016 @default.
- W1966579539 countsByYear W19665795392017 @default.
- W1966579539 countsByYear W19665795392018 @default.
- W1966579539 countsByYear W19665795392019 @default.
- W1966579539 countsByYear W19665795392021 @default.
- W1966579539 countsByYear W19665795392023 @default.
- W1966579539 crossrefType "journal-article" @default.
- W1966579539 hasAuthorship W1966579539A5002789634 @default.
- W1966579539 hasAuthorship W1966579539A5003467166 @default.
- W1966579539 hasAuthorship W1966579539A5004415918 @default.
- W1966579539 hasAuthorship W1966579539A5010356698 @default.
- W1966579539 hasAuthorship W1966579539A5017913426 @default.
- W1966579539 hasAuthorship W1966579539A5018159372 @default.
- W1966579539 hasAuthorship W1966579539A5018493266 @default.
- W1966579539 hasAuthorship W1966579539A5060588080 @default.
- W1966579539 hasBestOaLocation W19665795391 @default.
- W1966579539 hasConcept C104317684 @default.
- W1966579539 hasConcept C144024400 @default.
- W1966579539 hasConcept C149923435 @default.
- W1966579539 hasConcept C158157758 @default.
- W1966579539 hasConcept C168007829 @default.
- W1966579539 hasConcept C2780228694 @default.
- W1966579539 hasConcept C2908647359 @default.
- W1966579539 hasConcept C49105822 @default.
- W1966579539 hasConcept C501734568 @default.
- W1966579539 hasConcept C51679486 @default.
- W1966579539 hasConcept C54355233 @default.
- W1966579539 hasConcept C79879829 @default.
- W1966579539 hasConcept C86803240 @default.
- W1966579539 hasConcept C91779695 @default.
- W1966579539 hasConceptScore W1966579539C104317684 @default.
- W1966579539 hasConceptScore W1966579539C144024400 @default.
- W1966579539 hasConceptScore W1966579539C149923435 @default.
- W1966579539 hasConceptScore W1966579539C158157758 @default.
- W1966579539 hasConceptScore W1966579539C168007829 @default.
- W1966579539 hasConceptScore W1966579539C2780228694 @default.
- W1966579539 hasConceptScore W1966579539C2908647359 @default.
- W1966579539 hasConceptScore W1966579539C49105822 @default.
- W1966579539 hasConceptScore W1966579539C501734568 @default.
- W1966579539 hasConceptScore W1966579539C51679486 @default.
- W1966579539 hasConceptScore W1966579539C54355233 @default.
- W1966579539 hasConceptScore W1966579539C79879829 @default.
- W1966579539 hasConceptScore W1966579539C86803240 @default.
- W1966579539 hasConceptScore W1966579539C91779695 @default.
- W1966579539 hasIssue "6" @default.
- W1966579539 hasLocation W19665795391 @default.
- W1966579539 hasLocation W19665795392 @default.
- W1966579539 hasOpenAccess W1966579539 @default.
- W1966579539 hasPrimaryLocation W19665795391 @default.
- W1966579539 hasRelatedWork W1966579539 @default.
- W1966579539 hasRelatedWork W1979801072 @default.
- W1966579539 hasRelatedWork W2029633625 @default.
- W1966579539 hasRelatedWork W2045313050 @default.
- W1966579539 hasRelatedWork W2066856346 @default.
- W1966579539 hasRelatedWork W2108962753 @default.
- W1966579539 hasRelatedWork W2131514063 @default.
- W1966579539 hasRelatedWork W2171277769 @default.
- W1966579539 hasRelatedWork W2385813177 @default.
- W1966579539 hasRelatedWork W2350201234 @default.
- W1966579539 hasVolume "18" @default.
- W1966579539 isParatext "false" @default.
- W1966579539 isRetracted "false" @default.
- W1966579539 magId "1966579539" @default.
- W1966579539 workType "article" @default.