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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

dc.contributor.authorAttanasio, M.
dc.contributor.authorWise, E. L.
dc.contributor.authorWolf, M. T. F.
dc.contributor.authorUtsch, B.
dc.contributor.authorBecker, C.
dc.contributor.authorNuernberg, G.
dc.contributor.authorNuernberg, P.
dc.contributor.authorSaunier, S.
dc.contributor.authorAntignac, C.
dc.contributor.authorHildebrandt, F.
dc.contributor.authorNayir, A.
dc.contributor.authorOtto, E. A.
dc.contributor.authorTory, K.
dc.contributor.authorZhou, W.
dc.contributor.authorChaki, M.
dc.contributor.authorParuchuri, Y.
dc.date.accessioned2021-03-03T12:06:20Z
dc.date.available2021-03-03T12:06:20Z
dc.date.issued2009
dc.identifier.citationOtto E. A. , Tory K., Attanasio M., Zhou W., Chaki M., Paruchuri Y., Wise E. L. , Wolf M. T. F. , Utsch B., Becker C., et al., "Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)", JOURNAL OF MEDICAL GENETICS, cilt.46, sa.10, ss.663-670, 2009
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_2bde4898-5c12-46a7-8974-65a37d27b754
dc.identifier.urihttp://hdl.handle.net/20.500.12627/34238
dc.identifier.urihttps://doi.org/10.1136/jmg.2009.066613
dc.description.abstractBackground: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis.
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.titleHypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume46
dc.identifier.issue10
dc.identifier.startpage663
dc.identifier.endpage670
dc.contributor.firstauthorID193846


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