Basit öğe kaydını göster

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

dc.contributor.authorMortier, G.
dc.contributor.authorDe Paepe, A.
dc.contributor.authorMegarbane, A.
dc.contributor.authorLeroy, J. G.
dc.contributor.authorCoucke, P. J.
dc.contributor.authorWillaert, A.
dc.contributor.authorMalfait, F.
dc.contributor.authorSymoens, S.
dc.contributor.authorGevaert, K.
dc.contributor.authorKayserili, H.
dc.date.accessioned2021-03-03T07:35:38Z
dc.date.available2021-03-03T07:35:38Z
dc.date.issued2009
dc.identifier.citationWillaert A., Malfait F., Symoens S., Gevaert K., Kayserili H., Megarbane A., Mortier G., Leroy J. G. , Coucke P. J. , De Paepe A., "Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation", JOURNAL OF MEDICAL GENETICS, cilt.46, sa.4, ss.233-241, 2009
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_12c5b953-f03c-4f3f-8de7-b1bcf9919d0c
dc.identifier.urihttp://hdl.handle.net/20.500.12627/18072
dc.identifier.urihttps://doi.org/10.1136/jmg.2008.062729
dc.description.abstractBackground: Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue in both the type I and type II collagen alpha 1-chains.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titleRecessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentGhent University , ,
dc.identifier.volume46
dc.identifier.issue4
dc.identifier.startpage233
dc.identifier.endpage241
dc.contributor.firstauthorID192129


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster