FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2032119463> ?p ?o ?g. }

• W2032119463 endingPage "1147" @default.
• W2032119463 startingPage "1143" @default.
• W2032119463 abstract "In this report, we describe an approach to detect the presence of abnormal alleles in those genetic diseases in which frequency of occurrence of the same mutation is high (e.g., cystic fibrosis and sickle cell disease), and in others in which multiple mutations cause the disease and the sequence variation in an affected member of a given family is known (e.g., hemophilia B). Initially, from each subject, the DNA fragment containing the putative mutation site is amplified by the polymerase chain reaction. For each fragment two reaction mixtures are then prepared. Each contains the amplified fragment, a primer (18-mer or longer) whose sequence is identical to the coding sequence of the normal gene immediately flanking the 5' end of the mutation site, and either an alpha-32P-labeled nucleotide corresponding to the normal coding sequence at the mutation site or an alpha-32P-labeled nucleotide corresponding to the mutant sequence. Single nucleotide primer extensions are then carried out and analyzed by denaturing polyacrylamide gel electrophoresis and autoradiography. As predicted by the Watson-Crick base-pair rule, in the wild type only the normal base, in an affected member only the mutant base, and in carriers both the normal and the mutant base are incorporated into the primer. Thus, an essential feature of the present methodology is that the base immediately 3' to the template-bound primer is one of those altered in the mutant, since in this way an extension of the primer by a single base will give an extended molecule characteristic of either the mutant or the wild type. The method is rapid and should be useful in carrier detection and prenatal diagnosis of every genetic disease with a known sequence variation." @default.
• W2032119463 created "2016-06-24" @default.
• W2032119463 creator A5006743045 @default.
• W2032119463 creator A5009194049 @default.
• W2032119463 creator A5018048443 @default.
• W2032119463 creator A5037405297 @default.
• W2032119463 creator A5064068211 @default.
• W2032119463 creator A5068888539 @default.
• W2032119463 date "1991-02-15" @default.
• W2032119463 modified "2023-10-10" @default.
• W2032119463 title "Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes." @default.
• W2032119463 cites W114113623 @default.
• W2032119463 cites W1521441040 @default.
• W2032119463 cites W1604149400 @default.
• W2032119463 cites W1724686013 @default.
• W2032119463 cites W1965059484 @default.
• W2032119463 cites W1972953398 @default.
• W2032119463 cites W1973349497 @default.
• W2032119463 cites W1978208924 @default.
• W2032119463 cites W1991131571 @default.
• W2032119463 cites W1992259188 @default.
• W2032119463 cites W1992368452 @default.
• W2032119463 cites W1997521650 @default.
• W2032119463 cites W1999031673 @default.
• W2032119463 cites W2006085462 @default.
• W2032119463 cites W2011353459 @default.
• W2032119463 cites W2013519304 @default.
• W2032119463 cites W2015623521 @default.
• W2032119463 cites W2021693351 @default.
• W2032119463 cites W2022483739 @default.
• W2032119463 cites W2031494678 @default.
• W2032119463 cites W2032118018 @default.
• W2032119463 cites W2037729914 @default.
• W2032119463 cites W2039599894 @default.
• W2032119463 cites W2049914201 @default.
• W2032119463 cites W2055026289 @default.
• W2032119463 cites W2063450941 @default.
• W2032119463 cites W2065644953 @default.
• W2032119463 cites W2066795911 @default.
• W2032119463 cites W2078078890 @default.
• W2032119463 cites W2085559242 @default.
• W2032119463 cites W2088661249 @default.
• W2032119463 cites W2102892603 @default.
• W2032119463 cites W2114913949 @default.
• W2032119463 cites W2125391335 @default.
• W2032119463 cites W2139527439 @default.
• W2032119463 cites W2295080980 @default.
• W2032119463 cites W2317602332 @default.
• W2032119463 cites W2329226239 @default.
• W2032119463 cites W243838816 @default.
• W2032119463 cites W89035691 @default.
• W2032119463 doi "https://doi.org/10.1073/pnas.88.4.1143" @default.
• W2032119463 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/50973" @default.
• W2032119463 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1671714" @default.
• W2032119463 hasPublicationYear "1991" @default.
• W2032119463 type Work @default.
• W2032119463 sameAs 2032119463 @default.
• W2032119463 citedByCount "159" @default.
• W2032119463 countsByYear W20321194632012 @default.
• W2032119463 countsByYear W20321194632013 @default.
• W2032119463 countsByYear W20321194632014 @default.
• W2032119463 countsByYear W20321194632015 @default.
• W2032119463 countsByYear W20321194632016 @default.
• W2032119463 countsByYear W20321194632017 @default.
• W2032119463 countsByYear W20321194632018 @default.
• W2032119463 countsByYear W20321194632019 @default.
• W2032119463 countsByYear W20321194632020 @default.
• W2032119463 countsByYear W20321194632021 @default.
• W2032119463 countsByYear W20321194632022 @default.
• W2032119463 countsByYear W20321194632023 @default.
• W2032119463 crossrefType "journal-article" @default.
• W2032119463 hasAuthorship W2032119463A5006743045 @default.
• W2032119463 hasAuthorship W2032119463A5009194049 @default.
• W2032119463 hasAuthorship W2032119463A5018048443 @default.
• W2032119463 hasAuthorship W2032119463A5037405297 @default.
• W2032119463 hasAuthorship W2032119463A5064068211 @default.
• W2032119463 hasAuthorship W2032119463A5068888539 @default.
• W2032119463 hasBestOaLocation W20321194631 @default.
• W2032119463 hasConcept C104317684 @default.
• W2032119463 hasConcept C143065580 @default.
• W2032119463 hasConcept C153911025 @default.
• W2032119463 hasConcept C176944494 @default.
• W2032119463 hasConcept C178790620 @default.
• W2032119463 hasConcept C185581394 @default.
• W2032119463 hasConcept C185592680 @default.
• W2032119463 hasConcept C194857396 @default.
• W2032119463 hasConcept C2777563447 @default.
• W2032119463 hasConcept C49105822 @default.
• W2032119463 hasConcept C501734568 @default.
• W2032119463 hasConcept C512185932 @default.
• W2032119463 hasConcept C54355233 @default.
• W2032119463 hasConcept C84148353 @default.
• W2032119463 hasConcept C86803240 @default.
• W2032119463 hasConcept C91779695 @default.
• W2032119463 hasConceptScore W2032119463C104317684 @default.
• W2032119463 hasConceptScore W2032119463C143065580 @default.
• W2032119463 hasConceptScore W2032119463C153911025 @default.
• W2032119463 hasConceptScore W2032119463C176944494 @default.

• next