Matches in SemOpenAlex for { <https://semopenalex.org/work/W3031296616> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W3031296616 endingPage "430" @default.
- W3031296616 startingPage "429" @default.
- W3031296616 abstract "ObjectiveTo detect mutations in the PTPN11 gene in a family with LEOPARD syndrome (LS).MethodsClinical data were collected from a 7-year-old boy patient with LS. Peripheral blood was obtained from the patient, both of his parents, and 50 healthy controls. All the exons and their flanking sequences of the PTPN11 gene were amplified by PCR followed by direct DNA sequencing.ResultsA heterozygous missense mutation c.836A > G, which resulted in a substitution of TAT by TGT at codon 279, was found in exon 7 of the PTPN11 gene in the patient. No mutation was detected in the unaffected parents or healthy controls.ConclusionThe missense mutation c.836A > G may be the cause of the phenotype of LS in this family.Key words: LEOPARD syndrome; Genes; Mutation; Genes, PTPN11" @default.
- W3031296616 created "2020-06-05" @default.
- W3031296616 creator A5023305745 @default.
- W3031296616 creator A5034173780 @default.
- W3031296616 creator A5035346801 @default.
- W3031296616 creator A5038264400 @default.
- W3031296616 creator A5077063251 @default.
- W3031296616 creator A5081247728 @default.
- W3031296616 date "2015-06-15" @default.
- W3031296616 modified "2023-09-24" @default.
- W3031296616 title "Mutation analysis of the PTPN11 gene in a family with LEOPARD syndrome" @default.
- W3031296616 doi "https://doi.org/10.3760/cma.j.issn.0412-4030.2015.06.017" @default.
- W3031296616 hasPublicationYear "2015" @default.
- W3031296616 type Work @default.
- W3031296616 sameAs 3031296616 @default.
- W3031296616 citedByCount "0" @default.
- W3031296616 crossrefType "journal-article" @default.
- W3031296616 hasAuthorship W3031296616A5023305745 @default.
- W3031296616 hasAuthorship W3031296616A5034173780 @default.
- W3031296616 hasAuthorship W3031296616A5035346801 @default.
- W3031296616 hasAuthorship W3031296616A5038264400 @default.
- W3031296616 hasAuthorship W3031296616A5077063251 @default.
- W3031296616 hasAuthorship W3031296616A5081247728 @default.
- W3031296616 hasConcept C104317684 @default.
- W3031296616 hasConcept C153911025 @default.
- W3031296616 hasConcept C163565370 @default.
- W3031296616 hasConcept C2781187634 @default.
- W3031296616 hasConcept C2994225774 @default.
- W3031296616 hasConcept C31734879 @default.
- W3031296616 hasConcept C36823959 @default.
- W3031296616 hasConcept C501734568 @default.
- W3031296616 hasConcept C54355233 @default.
- W3031296616 hasConcept C75563809 @default.
- W3031296616 hasConcept C86803240 @default.
- W3031296616 hasConceptScore W3031296616C104317684 @default.
- W3031296616 hasConceptScore W3031296616C153911025 @default.
- W3031296616 hasConceptScore W3031296616C163565370 @default.
- W3031296616 hasConceptScore W3031296616C2781187634 @default.
- W3031296616 hasConceptScore W3031296616C2994225774 @default.
- W3031296616 hasConceptScore W3031296616C31734879 @default.
- W3031296616 hasConceptScore W3031296616C36823959 @default.
- W3031296616 hasConceptScore W3031296616C501734568 @default.
- W3031296616 hasConceptScore W3031296616C54355233 @default.
- W3031296616 hasConceptScore W3031296616C75563809 @default.
- W3031296616 hasConceptScore W3031296616C86803240 @default.
- W3031296616 hasIssue "6" @default.
- W3031296616 hasLocation W30312966161 @default.
- W3031296616 hasOpenAccess W3031296616 @default.
- W3031296616 hasPrimaryLocation W30312966161 @default.
- W3031296616 hasRelatedWork W11770659 @default.
- W3031296616 hasRelatedWork W2034625909 @default.
- W3031296616 hasRelatedWork W2076182034 @default.
- W3031296616 hasRelatedWork W2104056532 @default.
- W3031296616 hasRelatedWork W2186289885 @default.
- W3031296616 hasRelatedWork W2276426024 @default.
- W3031296616 hasRelatedWork W2411417470 @default.
- W3031296616 hasRelatedWork W2413006638 @default.
- W3031296616 hasRelatedWork W2416571814 @default.
- W3031296616 hasRelatedWork W2472606398 @default.
- W3031296616 hasRelatedWork W2514795499 @default.
- W3031296616 hasRelatedWork W2777159412 @default.
- W3031296616 hasRelatedWork W2907237022 @default.
- W3031296616 hasRelatedWork W2946256839 @default.
- W3031296616 hasRelatedWork W2984181020 @default.
- W3031296616 hasRelatedWork W3024306633 @default.
- W3031296616 hasRelatedWork W3030198999 @default.
- W3031296616 hasRelatedWork W3031019795 @default.
- W3031296616 hasRelatedWork W3032817382 @default.
- W3031296616 hasRelatedWork W3151416302 @default.
- W3031296616 hasVolume "48" @default.
- W3031296616 isParatext "false" @default.
- W3031296616 isRetracted "false" @default.
- W3031296616 magId "3031296616" @default.
- W3031296616 workType "article" @default.