FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2020121977> ?p ?o ?g. }

• W2020121977 endingPage "763" @default.
• W2020121977 startingPage "760" @default.
• W2020121977 abstract "It is now well established that defects in fibrillin-1 (FBN1) cause the variable and pleiotropic features of Marfan syndrome (MFS) and, at the most severe end of its clinical spectrum, neonatal Marfan syndrome (nMFS). Patients with nMFS have mitral and tricuspid valve involvement and aortic root dilatation, and die of congestive heart failure, often in the first year of life. Although mutations in classical MFS have been observed along the entire length of the FBN1 mRNA, mutations in nMFS appear to cluster in a relatively small region of FBN1, approximately between exons 24 and 34. Here we describe the appearance of two FBN1 mutations in a single allele of an infant with nMFS. The changes were within six bases of each other in exon 26. One was a T3212G transversion resulting in an I1071S amino acid substitution and the second was an A3219T transversion resulting in an E1073D amino acid substitution. This is the first reported double mutant allele in FBN1." @default.
• W2020121977 created "2016-06-24" @default.
• W2020121977 creator A5027763776 @default.
• W2020121977 creator A5035322817 @default.
• W2020121977 creator A5037547267 @default.
• W2020121977 creator A5037775852 @default.
• W2020121977 creator A5050661728 @default.
• W2020121977 creator A5054533297 @default.
• W2020121977 date "1996-09-01" @default.
• W2020121977 modified "2023-09-24" @default.
• W2020121977 title "Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome." @default.
• W2020121977 cites W1555580499 @default.
• W2020121977 cites W1563274038 @default.
• W2020121977 cites W1572983895 @default.
• W2020121977 cites W1600257864 @default.
• W2020121977 cites W188746894 @default.
• W2020121977 cites W1955361826 @default.
• W2020121977 cites W1984292795 @default.
• W2020121977 cites W1985498506 @default.
• W2020121977 cites W1991432766 @default.
• W2020121977 cites W2006725783 @default.
• W2020121977 cites W2022322532 @default.
• W2020121977 cites W2027792758 @default.
• W2020121977 cites W2034205273 @default.
• W2020121977 cites W2039529907 @default.
• W2020121977 cites W2051667040 @default.
• W2020121977 cites W2053146170 @default.
• W2020121977 cites W2056571800 @default.
• W2020121977 cites W2067442750 @default.
• W2020121977 cites W2077801152 @default.
• W2020121977 cites W2078227152 @default.
• W2020121977 cites W2080426796 @default.
• W2020121977 cites W2080931093 @default.
• W2020121977 cites W2085252674 @default.
• W2020121977 cites W2085312666 @default.
• W2020121977 cites W2106428892 @default.
• W2020121977 cites W2107267263 @default.
• W2020121977 cites W2115108065 @default.
• W2020121977 cites W2141667425 @default.
• W2020121977 cites W2149494129 @default.
• W2020121977 cites W2151396485 @default.
• W2020121977 cites W2160431619 @default.
• W2020121977 cites W2236125000 @default.
• W2020121977 cites W61187599 @default.
• W2020121977 doi "https://doi.org/10.1136/jmg.33.9.760" @default.
• W2020121977 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1050731" @default.
• W2020121977 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8880577" @default.
• W2020121977 hasPublicationYear "1996" @default.
• W2020121977 type Work @default.
• W2020121977 sameAs 2020121977 @default.
• W2020121977 citedByCount "26" @default.
• W2020121977 countsByYear W20201219772013 @default.
• W2020121977 countsByYear W20201219772014 @default.
• W2020121977 countsByYear W20201219772015 @default.
• W2020121977 countsByYear W20201219772016 @default.
• W2020121977 countsByYear W20201219772017 @default.
• W2020121977 countsByYear W20201219772018 @default.
• W2020121977 countsByYear W20201219772019 @default.
• W2020121977 crossrefType "journal-article" @default.
• W2020121977 hasAuthorship W2020121977A5027763776 @default.
• W2020121977 hasAuthorship W2020121977A5035322817 @default.
• W2020121977 hasAuthorship W2020121977A5037547267 @default.
• W2020121977 hasAuthorship W2020121977A5037775852 @default.
• W2020121977 hasAuthorship W2020121977A5050661728 @default.
• W2020121977 hasAuthorship W2020121977A5054533297 @default.
• W2020121977 hasBestOaLocation W20201219771 @default.
• W2020121977 hasConcept C104317684 @default.
• W2020121977 hasConcept C126322002 @default.
• W2020121977 hasConcept C143065580 @default.
• W2020121977 hasConcept C180754005 @default.
• W2020121977 hasConcept C2780561598 @default.
• W2020121977 hasConcept C36823959 @default.
• W2020121977 hasConcept C501734568 @default.
• W2020121977 hasConcept C54355233 @default.
• W2020121977 hasConcept C64872895 @default.
• W2020121977 hasConcept C71924100 @default.
• W2020121977 hasConcept C76334062 @default.
• W2020121977 hasConcept C86803240 @default.
• W2020121977 hasConceptScore W2020121977C104317684 @default.
• W2020121977 hasConceptScore W2020121977C126322002 @default.
• W2020121977 hasConceptScore W2020121977C143065580 @default.
• W2020121977 hasConceptScore W2020121977C180754005 @default.
• W2020121977 hasConceptScore W2020121977C2780561598 @default.
• W2020121977 hasConceptScore W2020121977C36823959 @default.
• W2020121977 hasConceptScore W2020121977C501734568 @default.
• W2020121977 hasConceptScore W2020121977C54355233 @default.
• W2020121977 hasConceptScore W2020121977C64872895 @default.
• W2020121977 hasConceptScore W2020121977C71924100 @default.
• W2020121977 hasConceptScore W2020121977C76334062 @default.
• W2020121977 hasConceptScore W2020121977C86803240 @default.
• W2020121977 hasIssue "9" @default.
• W2020121977 hasLocation W20201219771 @default.
• W2020121977 hasLocation W20201219772 @default.
• W2020121977 hasLocation W20201219773 @default.
• W2020121977 hasLocation W20201219774 @default.
• W2020121977 hasOpenAccess W2020121977 @default.
• W2020121977 hasPrimaryLocation W20201219771 @default.
• W2020121977 hasRelatedWork W2004995055 @default.

• next