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Titel:

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Dokumenttyp:
Journal Article; Article
Autor(en):
Heeringa, SF; Chernin, G; Chaki, M; Zhou, W; Sloan, AJ; Ji, Z; Xie, LX; Salviati, L; Hurd, TW; Vega-Warner, V; Killen, PD; Raphael, Y; Ashraf, S; Ovunc, B; Schoeb, DS; McLaughlin, HM; Airik, R; Vlangos, CN; Gbadegesin, R; Hinkes, B; Saisawat, P; Trevisson, E; Doimo, M; Casarin, A; Pertegato, V; Giorgi, G; Prokisch, H; Rötig, A; Nürnberg, G; Becker, C; Wang, S; Ozaltin, F; Topaloglu, R; Bakkaloglu, A; Bakkaloglu, SA; Müller, D; Beissert, A; Mir, S; Berdeli, A; Varpizen, S; Zenker, M; Matejas, V;...     »
Abstract:
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping. Each mutation was linked to early-onset SR...     »
Zeitschriftentitel:
J Clin Invest
Jahr:
2011
Band / Volume:
121
Heft / Issue:
5
Seitenangaben Beitrag:
2013-24
Sprache:
eng
Volltext / DOI:
doi:10.1172/JCI45693
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/21540551
Print-ISSN:
0021-9738
TUM Einrichtung:
Institut für Humangenetik
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