FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3206846670> ?p ?o ?g. }

• W3206846670 endingPage "682" @default.
• W3206846670 startingPage "674" @default.
• W3206846670 abstract "Background: Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are related to skeletal dysplasias (SDs): acondroplasia (ACH), hypochodroplasia (HCH) and type I (TDI) and II (TDII) tanatophoric dysplasias. This study was designed to standardize and implement a high-resolution melting (HRM) technique to identify mutations in patients with these phenotypes. Methods: Initially, FGFR3 gene segments from 84 patients were PCR amplified and subjected to Sanger sequencing. Samples from 29 patients positive for mutations were analyzed by HRM. Results: Twelve of the patients FGFR3 mutations had ACH (six g.16081 G > A, three g.16081 G > C and three g.16081 G > A + g.16002 C > T); thirteen of patients with HCH had FGFR3 mutations (eight g.17333 C > A, five g.17333 C > G and five were negative); and four patients with DTI had FGFR3 mutations (three g.13526 C > T and one g.16051G > T and two patients with DTII (presented mutation g.17852 A > G). When analyzing the four SDs altogether, an overlap of the dissociation curves was observed, making genotyping difficult. When analyzed separately, however, the HRM analysis method proved to be efficient for discriminating among the mutations for each SD type, except for those patients carrying additional polymorphism concomitant to the recurrent mutation. Conclusion: We conclude that for recurrent mutations in the FGFR3 gene, that the HRM technique can be used as a faster, reliable and less expensive genotyping routine for the diagnosis of these pathologies than Sanger sequencing." @default.
• W3206846670 created "2021-10-25" @default.
• W3206846670 creator A5001932773 @default.
• W3206846670 creator A5013235717 @default.
• W3206846670 creator A5016632696 @default.
• W3206846670 creator A5028741113 @default.
• W3206846670 creator A5062500409 @default.
• W3206846670 creator A5074287395 @default.
• W3206846670 creator A5089157565 @default.
• W3206846670 date "2021-10-01" @default.
• W3206846670 modified "2023-09-26" @default.
• W3206846670 title "High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias" @default.
• W3206846670 cites W1987015094 @default.
• W3206846670 cites W1990210543 @default.
• W3206846670 cites W2016594072 @default.
• W3206846670 cites W2030147623 @default.
• W3206846670 cites W2031327655 @default.
• W3206846670 cites W2070818261 @default.
• W3206846670 cites W2077027283 @default.
• W3206846670 cites W2078775083 @default.
• W3206846670 cites W2086733917 @default.
• W3206846670 cites W2093971794 @default.
• W3206846670 cites W2103051141 @default.
• W3206846670 cites W2112444375 @default.
• W3206846670 cites W2118094114 @default.
• W3206846670 cites W2135465326 @default.
• W3206846670 cites W2136970568 @default.
• W3206846670 cites W2148408838 @default.
• W3206846670 cites W2157803564 @default.
• W3206846670 cites W2747239560 @default.
• W3206846670 cites W2765200941 @default.
• W3206846670 cites W2792034598 @default.
• W3206846670 cites W2942333799 @default.
• W3206846670 cites W2942975439 @default.
• W3206846670 cites W4211105381 @default.
• W3206846670 doi "https://doi.org/10.1089/gtmb.2020.0330" @default.
• W3206846670 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34672771" @default.
• W3206846670 hasPublicationYear "2021" @default.
• W3206846670 type Work @default.
• W3206846670 sameAs 3206846670 @default.
• W3206846670 citedByCount "0" @default.
• W3206846670 crossrefType "journal-article" @default.
• W3206846670 hasAuthorship W3206846670A5001932773 @default.
• W3206846670 hasAuthorship W3206846670A5013235717 @default.
• W3206846670 hasAuthorship W3206846670A5016632696 @default.
• W3206846670 hasAuthorship W3206846670A5028741113 @default.
• W3206846670 hasAuthorship W3206846670A5062500409 @default.
• W3206846670 hasAuthorship W3206846670A5074287395 @default.
• W3206846670 hasAuthorship W3206846670A5089157565 @default.
• W3206846670 hasConcept C104317684 @default.
• W3206846670 hasConcept C127716648 @default.
• W3206846670 hasConcept C135763542 @default.
• W3206846670 hasConcept C147708747 @default.
• W3206846670 hasConcept C153911025 @default.
• W3206846670 hasConcept C163565370 @default.
• W3206846670 hasConcept C170493617 @default.
• W3206846670 hasConcept C176944494 @default.
• W3206846670 hasConcept C2994225774 @default.
• W3206846670 hasConcept C31467283 @default.
• W3206846670 hasConcept C34372108 @default.
• W3206846670 hasConcept C49105822 @default.
• W3206846670 hasConcept C501734568 @default.
• W3206846670 hasConcept C54355233 @default.
• W3206846670 hasConcept C74373430 @default.
• W3206846670 hasConcept C76818968 @default.
• W3206846670 hasConcept C86803240 @default.
• W3206846670 hasConceptScore W3206846670C104317684 @default.
• W3206846670 hasConceptScore W3206846670C127716648 @default.
• W3206846670 hasConceptScore W3206846670C135763542 @default.
• W3206846670 hasConceptScore W3206846670C147708747 @default.
• W3206846670 hasConceptScore W3206846670C153911025 @default.
• W3206846670 hasConceptScore W3206846670C163565370 @default.
• W3206846670 hasConceptScore W3206846670C170493617 @default.
• W3206846670 hasConceptScore W3206846670C176944494 @default.
• W3206846670 hasConceptScore W3206846670C2994225774 @default.
• W3206846670 hasConceptScore W3206846670C31467283 @default.
• W3206846670 hasConceptScore W3206846670C34372108 @default.
• W3206846670 hasConceptScore W3206846670C49105822 @default.
• W3206846670 hasConceptScore W3206846670C501734568 @default.
• W3206846670 hasConceptScore W3206846670C54355233 @default.
• W3206846670 hasConceptScore W3206846670C74373430 @default.
• W3206846670 hasConceptScore W3206846670C76818968 @default.
• W3206846670 hasConceptScore W3206846670C86803240 @default.
• W3206846670 hasIssue "10" @default.
• W3206846670 hasLocation W32068466701 @default.
• W3206846670 hasLocation W32068466702 @default.
• W3206846670 hasOpenAccess W3206846670 @default.
• W3206846670 hasPrimaryLocation W32068466701 @default.
• W3206846670 hasRelatedWork W2024518631 @default.
• W3206846670 hasRelatedWork W2082727376 @default.
• W3206846670 hasRelatedWork W2156914784 @default.
• W3206846670 hasRelatedWork W2337454955 @default.
• W3206846670 hasRelatedWork W2385735196 @default.
• W3206846670 hasRelatedWork W2405383025 @default.
• W3206846670 hasRelatedWork W2574921060 @default.
• W3206846670 hasRelatedWork W2985346287 @default.
• W3206846670 hasRelatedWork W3206846670 @default.
• W3206846670 hasRelatedWork W4210545140 @default.

• next