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Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

dc.contributor.authorYilmaz, Saliha
dc.contributor.authorCelen, Cemre
dc.contributor.authorYoungblood, Mark W.
dc.contributor.authorYasuno, Katsuhito
dc.contributor.authorGunel, Murat
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorKasapcopur, Ozgur
dc.contributor.authorBarut, Kenan
dc.contributor.authorAlkaya, Dilek Uludag
dc.contributor.authorAkdemir, Ekin S.
dc.date.accessioned2021-03-03T18:39:11Z
dc.date.available2021-03-03T18:39:11Z
dc.date.issued2018
dc.identifier.citationYilmaz S., Alkaya D. U. , Kasapcopur O., Barut K., Akdemir E. S. , Celen C., Youngblood M. W. , Yasuno K., Bilguvar K., Gunel M., et al., "Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome", MOLECULAR GENETICS & GENOMIC MEDICINE, cilt.6, sa.2, ss.230-248, 2018
dc.identifier.issn2324-9269
dc.identifier.othervv_1032021
dc.identifier.otherav_50430fa5-e12d-4f02-a916-628d37af110e
dc.identifier.urihttp://hdl.handle.net/20.500.12627/57160
dc.identifier.urihttps://doi.org/10.1002/mgg3.364
dc.description.abstractBackgroundThe camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricating glycoprotein present in the synovial fluid and at the surface of articular cartilage.
dc.language.isoeng
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.titleGenotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
dc.typeMakale
dc.relation.journalMOLECULAR GENETICS & GENOMIC MEDICINE
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume6
dc.identifier.issue2
dc.identifier.startpage230
dc.identifier.endpage248
dc.contributor.firstauthorID251910


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