Matches in SemOpenAlex for { <https://semopenalex.org/work/W2003548364> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2003548364 endingPage "231" @default.
- W2003548364 startingPage "229" @default.
- W2003548364 abstract "Nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) is an unusual type of hearing loss that affects frequencies at 2,000 Hz and below. Recently, we reported five different heterozygous missense mutations in the Wolfram syndrome gene, WFS1, found to be responsible for LFSNHL in six families. One of the five mutations, A716T, may be a common cause of LFSNHL, as it has been reported in three families to date (Bespalova et al., 2001; Young et al., 2001). We have developed a PCR-based restriction fragment-length polymorphism (RFLP) assay to detect the A716T mutation in a simple, specific test. This method was evaluated with DNA samples from a family in which the A716T mutation was segregating with LFSNHL. This simple assay successfully detected the presence of the A716T mutation in all of the individuals predicted to be affected, based on audiologic results. Therefore, this assay can be routinely used for initial screening of the A716T mutation in patients with LFSNHL, before screening the entire coding region of the WFS1 gene." @default.
- W2003548364 created "2016-06-24" @default.
- W2003548364 creator A5071843040 @default.
- W2003548364 creator A5078078599 @default.
- W2003548364 date "2002-09-01" @default.
- W2003548364 modified "2023-09-27" @default.
- W2003548364 title "A PCR-RFLP Assay for the A716T Mutation in the <i>WFS1</i> Gene, a Common Cause of Low-Frequency Sensorineural Hearing Loss" @default.
- W2003548364 cites W1972974309 @default.
- W2003548364 cites W2000026908 @default.
- W2003548364 cites W2004375241 @default.
- W2003548364 cites W2049446794 @default.
- W2003548364 cites W2099907055 @default.
- W2003548364 cites W2108173334 @default.
- W2003548364 cites W2167487170 @default.
- W2003548364 cites W2326210552 @default.
- W2003548364 doi "https://doi.org/10.1089/109065702761403423" @default.
- W2003548364 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12490066" @default.
- W2003548364 hasPublicationYear "2002" @default.
- W2003548364 type Work @default.
- W2003548364 sameAs 2003548364 @default.
- W2003548364 citedByCount "4" @default.
- W2003548364 countsByYear W20035483642018 @default.
- W2003548364 countsByYear W20035483642022 @default.
- W2003548364 countsByYear W20035483642023 @default.
- W2003548364 crossrefType "journal-article" @default.
- W2003548364 hasAuthorship W2003548364A5071843040 @default.
- W2003548364 hasAuthorship W2003548364A5078078599 @default.
- W2003548364 hasBestOaLocation W20035483642 @default.
- W2003548364 hasConcept C104317684 @default.
- W2003548364 hasConcept C153911025 @default.
- W2003548364 hasConcept C168007829 @default.
- W2003548364 hasConcept C2780493683 @default.
- W2003548364 hasConcept C2780607864 @default.
- W2003548364 hasConcept C2994225774 @default.
- W2003548364 hasConcept C49105822 @default.
- W2003548364 hasConcept C501734568 @default.
- W2003548364 hasConcept C54355233 @default.
- W2003548364 hasConcept C548259974 @default.
- W2003548364 hasConcept C71924100 @default.
- W2003548364 hasConcept C75563809 @default.
- W2003548364 hasConcept C86803240 @default.
- W2003548364 hasConcept C91779695 @default.
- W2003548364 hasConceptScore W2003548364C104317684 @default.
- W2003548364 hasConceptScore W2003548364C153911025 @default.
- W2003548364 hasConceptScore W2003548364C168007829 @default.
- W2003548364 hasConceptScore W2003548364C2780493683 @default.
- W2003548364 hasConceptScore W2003548364C2780607864 @default.
- W2003548364 hasConceptScore W2003548364C2994225774 @default.
- W2003548364 hasConceptScore W2003548364C49105822 @default.
- W2003548364 hasConceptScore W2003548364C501734568 @default.
- W2003548364 hasConceptScore W2003548364C54355233 @default.
- W2003548364 hasConceptScore W2003548364C548259974 @default.
- W2003548364 hasConceptScore W2003548364C71924100 @default.
- W2003548364 hasConceptScore W2003548364C75563809 @default.
- W2003548364 hasConceptScore W2003548364C86803240 @default.
- W2003548364 hasConceptScore W2003548364C91779695 @default.
- W2003548364 hasIssue "3" @default.
- W2003548364 hasLocation W20035483641 @default.
- W2003548364 hasLocation W20035483642 @default.
- W2003548364 hasLocation W20035483643 @default.
- W2003548364 hasOpenAccess W2003548364 @default.
- W2003548364 hasPrimaryLocation W20035483641 @default.
- W2003548364 hasRelatedWork W1988368560 @default.
- W2003548364 hasRelatedWork W2031464773 @default.
- W2003548364 hasRelatedWork W2063106792 @default.
- W2003548364 hasRelatedWork W2073260365 @default.
- W2003548364 hasRelatedWork W2076827782 @default.
- W2003548364 hasRelatedWork W2258430434 @default.
- W2003548364 hasRelatedWork W2350102540 @default.
- W2003548364 hasRelatedWork W3025009704 @default.
- W2003548364 hasRelatedWork W4315620081 @default.
- W2003548364 hasRelatedWork W80739611 @default.
- W2003548364 hasVolume "6" @default.
- W2003548364 isParatext "false" @default.
- W2003548364 isRetracted "false" @default.
- W2003548364 magId "2003548364" @default.
- W2003548364 workType "article" @default.