Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

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dc.contributor.authorYuksel-Konuk, Berrin
dc.contributor.authorSirmaci, Asli
dc.contributor.authorAyten, Guelen Ece
dc.contributor.authorOzdemir, Mustafa
dc.contributor.authorAslan, Idil
dc.contributor.authorYilmaz-Turay, Uelkue
dc.contributor.authorErdogan, Yurdanur
dc.date.accessioned2020-03-26T17:38:51Z
dc.date.available2020-03-26T17:38:51Z
dc.date.issued2009
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractMutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis. We screened HPGD mutations in six patients from three unrelated Turkish families with PHO, in which we showed one previously reported, p.A140P, and one novel, p.M1L, homozygous mutations. Both mutations co-segregated with the phenotype in all three families and were absent in 100 Turkish controls. These results confirm the presence of biallelic HPGD mutations in patients with PHO in an independent series from a different population.en_US
dc.identifier.doi10.1007/s00296-009-0895-6en_US
dc.identifier.endpage43en_US
dc.identifier.issn0172-8172en_US
dc.identifier.issn1437-160Xen_US
dc.identifier.issue1en_US
dc.identifier.pmid19306095en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage39en_US
dc.identifier.urihttps://dx.doi.org/10.1007/s00296-009-0895-6
dc.identifier.urihttps://hdl.handle.net/20.500.12395/23589
dc.identifier.volume30en_US
dc.identifier.wosWOS:000271989400005en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSPRINGER HEIDELBERGen_US
dc.relation.ispartofRHEUMATOLOGY INTERNATIONALen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectAutosomal recessiveen_US
dc.subjectConsanguinityen_US
dc.subject15-Hydroxyprostaglandin dehydrogenase geneen_US
dc.subjectPrimary hypertrophic osteoarthropathyen_US
dc.titleHomozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathyen_US
dc.typeArticleen_US

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