FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1967485093> ?p ?o ?g. }

• W1967485093 endingPage "342" @default.
• W1967485093 startingPage "335" @default.
• W1967485093 abstract "Achondroplasia (ACH) is the most common genetic form of dwarfism. This disorder is inherited as an autosomal dominant trait, although the majority of cases are sporadic. A gene for ACH was recently localized to 4p 16.3 by linkage analyses. The ACH candidate region includes the gene encoding fibroblast growth factor receptor 3 (FGFR3), which was originally considered as a candidate for the Huntington's disease gene. DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes. The mutation on 15 of the 16 ACH-affected chromosomes was the same, a G→A transition, at nucleotide 1138 of the cDNA. The mutation on the only ACH-affected chromosome 4 without the G→A transition at nucleotide 1138 had a G→C transversion at this same position. Both mutations result in the substitution of an arginine residue for a glycine at position 380 of the mature protein, which is in the transmembrane domain of FGFR3." @default.
• W1967485093 created "2016-06-24" @default.
• W1967485093 creator A5008345879 @default.
• W1967485093 creator A5039698947 @default.
• W1967485093 creator A5042469087 @default.
• W1967485093 creator A5050826738 @default.
• W1967485093 creator A5054574002 @default.
• W1967485093 creator A5061114231 @default.
• W1967485093 creator A5087837296 @default.
• W1967485093 creator A5089568820 @default.
• W1967485093 date "1994-07-01" @default.
• W1967485093 modified "2023-10-18" @default.
• W1967485093 title "Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia" @default.
• W1967485093 cites W1499670070 @default.
• W1967485093 cites W1512997946 @default.
• W1967485093 cites W1513451331 @default.
• W1967485093 cites W1576596365 @default.
• W1967485093 cites W1582980602 @default.
• W1967485093 cites W1828331863 @default.
• W1967485093 cites W1854803455 @default.
• W1967485093 cites W1881900550 @default.
• W1967485093 cites W1964704093 @default.
• W1967485093 cites W1977136262 @default.
• W1967485093 cites W1981267260 @default.
• W1967485093 cites W1989375025 @default.
• W1967485093 cites W1991604495 @default.
• W1967485093 cites W2002093455 @default.
• W1967485093 cites W2004925820 @default.
• W1967485093 cites W2010946808 @default.
• W1967485093 cites W2016677774 @default.
• W1967485093 cites W2027426248 @default.
• W1967485093 cites W2028828556 @default.
• W1967485093 cites W2032359283 @default.
• W1967485093 cites W2034105248 @default.
• W1967485093 cites W2059521359 @default.
• W1967485093 cites W2070531186 @default.
• W1967485093 cites W2072063319 @default.
• W1967485093 cites W2092765135 @default.
• W1967485093 cites W2100648659 @default.
• W1967485093 cites W2113923204 @default.
• W1967485093 cites W2114999674 @default.
• W1967485093 cites W2994186267 @default.
• W1967485093 cites W4250626408 @default.
• W1967485093 doi "https://doi.org/10.1016/0092-8674(94)90302-6" @default.
• W1967485093 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7913883" @default.
• W1967485093 hasPublicationYear "1994" @default.
• W1967485093 type Work @default.
• W1967485093 sameAs 1967485093 @default.
• W1967485093 citedByCount "1178" @default.
• W1967485093 countsByYear W19674850932012 @default.
• W1967485093 countsByYear W19674850932013 @default.
• W1967485093 countsByYear W19674850932014 @default.
• W1967485093 countsByYear W19674850932015 @default.
• W1967485093 countsByYear W19674850932016 @default.
• W1967485093 countsByYear W19674850932017 @default.
• W1967485093 countsByYear W19674850932018 @default.
• W1967485093 countsByYear W19674850932019 @default.
• W1967485093 countsByYear W19674850932020 @default.
• W1967485093 countsByYear W19674850932021 @default.
• W1967485093 countsByYear W19674850932022 @default.
• W1967485093 countsByYear W19674850932023 @default.
• W1967485093 crossrefType "journal-article" @default.
• W1967485093 hasAuthorship W1967485093A5008345879 @default.
• W1967485093 hasAuthorship W1967485093A5039698947 @default.
• W1967485093 hasAuthorship W1967485093A5042469087 @default.
• W1967485093 hasAuthorship W1967485093A5050826738 @default.
• W1967485093 hasAuthorship W1967485093A5054574002 @default.
• W1967485093 hasAuthorship W1967485093A5061114231 @default.
• W1967485093 hasAuthorship W1967485093A5087837296 @default.
• W1967485093 hasAuthorship W1967485093A5089568820 @default.
• W1967485093 hasConcept C104317684 @default.
• W1967485093 hasConcept C118892022 @default.
• W1967485093 hasConcept C147708747 @default.
• W1967485093 hasConcept C170493617 @default.
• W1967485093 hasConcept C176944494 @default.
• W1967485093 hasConcept C2778111144 @default.
• W1967485093 hasConcept C2780472190 @default.
• W1967485093 hasConcept C501734568 @default.
• W1967485093 hasConcept C54355233 @default.
• W1967485093 hasConcept C64872895 @default.
• W1967485093 hasConcept C74373430 @default.
• W1967485093 hasConcept C86803240 @default.
• W1967485093 hasConceptScore W1967485093C104317684 @default.
• W1967485093 hasConceptScore W1967485093C118892022 @default.
• W1967485093 hasConceptScore W1967485093C147708747 @default.
• W1967485093 hasConceptScore W1967485093C170493617 @default.
• W1967485093 hasConceptScore W1967485093C176944494 @default.
• W1967485093 hasConceptScore W1967485093C2778111144 @default.
• W1967485093 hasConceptScore W1967485093C2780472190 @default.
• W1967485093 hasConceptScore W1967485093C501734568 @default.
• W1967485093 hasConceptScore W1967485093C54355233 @default.
• W1967485093 hasConceptScore W1967485093C64872895 @default.
• W1967485093 hasConceptScore W1967485093C74373430 @default.
• W1967485093 hasConceptScore W1967485093C86803240 @default.
• W1967485093 hasIssue "2" @default.
• W1967485093 hasLocation W19674850931 @default.
• W1967485093 hasLocation W19674850932 @default.
• W1967485093 hasOpenAccess W1967485093 @default.

• next