FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2035822921> ?p ?o ?g. }

• W2035822921 endingPage "150" @default.
• W2035822921 startingPage "149" @default.
• W2035822921 abstract "Human MutationVolume 7, Issue 2 p. 149-150 Mutations in Brief Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked alport syndrome Svetlana Tverskaya, Corresponding Author Svetlana Tverskaya 115478 Research Centre for Medical Genetics, Moscow, Russia115478 Research Centre for Medical Genetics, Moscow, RussiaSearch for more papers by this authorVlasta Bobrynina, Vlasta Bobrynina 117513 Research Institute for Pediatric Hematology, Moscow, RussiaSearch for more papers by this authorFatima Tsalykova, Fatima Tsalykova 127412 Institute of Pediatrics and Children's Surgery, Moscow, Russia; Fax: 7-095-324-07-02Search for more papers by this authorMaya Ignatova, Maya Ignatova 127412 Institute of Pediatrics and Children's Surgery, Moscow, Russia; Fax: 7-095-324-07-02Search for more papers by this authorXenia Krasnopolskaya, Xenia Krasnopolskaya 115478 Research Centre for Medical Genetics, Moscow, RussiaSearch for more papers by this authorOleg Evgrafov, Oleg Evgrafov 115478 Research Centre for Medical Genetics, Moscow, RussiaSearch for more papers by this author Svetlana Tverskaya, Corresponding Author Svetlana Tverskaya 115478 Research Centre for Medical Genetics, Moscow, Russia115478 Research Centre for Medical Genetics, Moscow, RussiaSearch for more papers by this authorVlasta Bobrynina, Vlasta Bobrynina 117513 Research Institute for Pediatric Hematology, Moscow, RussiaSearch for more papers by this authorFatima Tsalykova, Fatima Tsalykova 127412 Institute of Pediatrics and Children's Surgery, Moscow, Russia; Fax: 7-095-324-07-02Search for more papers by this authorMaya Ignatova, Maya Ignatova 127412 Institute of Pediatrics and Children's Surgery, Moscow, Russia; Fax: 7-095-324-07-02Search for more papers by this authorXenia Krasnopolskaya, Xenia Krasnopolskaya 115478 Research Centre for Medical Genetics, Moscow, RussiaSearch for more papers by this authorOleg Evgrafov, Oleg Evgrafov 115478 Research Centre for Medical Genetics, Moscow, RussiaSearch for more papers by this author First published: 1996 https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<149::AID-HUMU9>3.0.CO;2-7Citations: 3AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References Alport AC (1927) Hereditary familial congenital haemorragic nephritis. BMJ 1: 504– 506. Atkin CL, Gregory MC, Border WA (1988): Alport Syndrome. In RW Schrier, CW Gottschalk (eds): Diseases of the Kidney. 4th Ed. Boston: Little, Brown, pp 617– 641. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutation in the COL4A5 collagen gene in Alport syndrome. Science 248: 1224– 1227. Blum H, Blier H, Cross HJ (1982) Improved silver staining of plant proteins, RNA and DNA in polyacrylamide gels. Electrophoresis 8: 126– 129. Boye E, Vetrie D, Flinter FA, Buckle B, Pihlajaniemi T, Hamalainen ER, Myers JC, Bobrow M, Harris A, (1991) Major rearrangements in the a5(IV) collagen gene in three patients with Alport syndrome. Genomics 11: 1125– 1132. Flinter F, Bobrow M (1992) The molecular genetics of Alport syndrome: Report of two workshops. J Med Genet 29: 352– 353. Kashtan C, Kleppel M, Butkowski R, Michael A, Fish A (1990) Alport syndrome, basement membranes and collagen. Pediatr Nephrol 4: 523– 532. Lemmink HH, Nillesen WG, van den Heuvel L, Schroder CH, van Oost BA, Brunner HG, Monnens LAH, Smeets HJM (1994a) Molecular analysis of type IV collagen genes and proteins involved in X-linked and autosomal recessive Alport syndrome. In Third International Workshop on Alport Syndrome. Lemmink HH, Kluijtmans LA, Brunner HG, Schroder CH, Knebelmann Jelinkova E, van Oost BA, Monnens LA, Smeets HJ (1994b) Aberrant splicing of the COL4A5 gene in patients with Alport syndrome. Hum Mol Genet 2: 317– 322. Lindblom B, Holmlund G (1988) Rapid DNA purification for restriction fragment length polymorphism analysis. Gene Anal Technol 5: 97– 101. Tryggvason K, Zhou J, Hostikka L, Shows TB (1993) Molecular genetics of Alport syndrome. Kidney Int 43: 38– 44. Vetrie D, Flinter F, Bobrow M, Harris A (1992) Construction of a yeast artificial chromosome contig encompassing the human a5(IV) collagen gene (COL4A5). Genomics 14: 634– 642. Weber M (1992) Basement membrane proteins. Kidney Int 41: 620– 628. Zhou J, Hertz JM, Tryggvason K (1992a) Mutation in the a5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: Detection by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet 50: 1291– 1300. Zhou J, Hertz JM, Leinonen A, Tryggvason K (1992b) Complete amino acid sequence of the human a5(IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. J Biol Chem 267: 12475– 12481. Citing Literature Volume7, Issue21996Pages 149-150 ReferencesRelatedInformation" @default.
• W2035822921 created "2016-06-24" @default.
• W2035822921 creator A5010445078 @default.
• W2035822921 creator A5017508712 @default.
• W2035822921 creator A5024170356 @default.
• W2035822921 creator A5047097070 @default.
• W2035822921 creator A5055112221 @default.
• W2035822921 creator A5059189095 @default.
• W2035822921 date "1996-01-01" @default.
• W2035822921 modified "2023-09-27" @default.
• W2035822921 title "Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked alport syndrome" @default.
• W2035822921 cites W1968111604 @default.
• W2035822921 cites W1969952456 @default.
• W2035822921 cites W2022463109 @default.
• W2035822921 cites W2029863361 @default.
• W2035822921 cites W2036281208 @default.
• W2035822921 cites W2046144983 @default.
• W2035822921 cites W2060620806 @default.
• W2035822921 cites W2085063709 @default.
• W2035822921 cites W2092997581 @default.
• W2035822921 cites W2109297796 @default.
• W2035822921 cites W2136270996 @default.
• W2035822921 doi "https://doi.org/10.1002/(sici)1098-1004(1996)7:2<149::aid-humu9>3.0.co;2-7" @default.
• W2035822921 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8829632" @default.
• W2035822921 hasPublicationYear "1996" @default.
• W2035822921 type Work @default.
• W2035822921 sameAs 2035822921 @default.
• W2035822921 citedByCount "4" @default.
• W2035822921 crossrefType "journal-article" @default.
• W2035822921 hasAuthorship W2035822921A5010445078 @default.
• W2035822921 hasAuthorship W2035822921A5017508712 @default.
• W2035822921 hasAuthorship W2035822921A5024170356 @default.
• W2035822921 hasAuthorship W2035822921A5047097070 @default.
• W2035822921 hasAuthorship W2035822921A5055112221 @default.
• W2035822921 hasAuthorship W2035822921A5059189095 @default.
• W2035822921 hasBestOaLocation W20358229211 @default.
• W2035822921 hasConcept C161191863 @default.
• W2035822921 hasConcept C2991797542 @default.
• W2035822921 hasConcept C41008148 @default.
• W2035822921 hasConcept C512399662 @default.
• W2035822921 hasConcept C71924100 @default.
• W2035822921 hasConcept C86803240 @default.
• W2035822921 hasConceptScore W2035822921C161191863 @default.
• W2035822921 hasConceptScore W2035822921C2991797542 @default.
• W2035822921 hasConceptScore W2035822921C41008148 @default.
• W2035822921 hasConceptScore W2035822921C512399662 @default.
• W2035822921 hasConceptScore W2035822921C71924100 @default.
• W2035822921 hasConceptScore W2035822921C86803240 @default.
• W2035822921 hasIssue "2" @default.
• W2035822921 hasLocation W20358229211 @default.
• W2035822921 hasLocation W20358229212 @default.
• W2035822921 hasOpenAccess W2035822921 @default.
• W2035822921 hasPrimaryLocation W20358229211 @default.
• W2035822921 hasRelatedWork W1892110920 @default.
• W2035822921 hasRelatedWork W1997014975 @default.
• W2035822921 hasRelatedWork W2154706284 @default.
• W2035822921 hasRelatedWork W2480483681 @default.
• W2035822921 hasRelatedWork W2652281 @default.
• W2035822921 hasRelatedWork W2725429928 @default.
• W2035822921 hasRelatedWork W4236578406 @default.
• W2035822921 hasRelatedWork W4238870987 @default.
• W2035822921 hasRelatedWork W4249789406 @default.
• W2035822921 hasRelatedWork W623865922 @default.
• W2035822921 hasVolume "7" @default.
• W2035822921 isParatext "false" @default.
• W2035822921 isRetracted "false" @default.
• W2035822921 magId "2035822921" @default.
• W2035822921 workType "article" @default.