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eNauka >  Results >  Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
Title: Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
Authors : Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al, Turki Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin;
Vinke, Tobias; Toenshoff, Burkhard; Di, Donato Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radovan; Peco‐Antić, Amira; Mache, Christoph; Hurles, Matthew E.; Joksić, Ivana; Guć‐Šćekić, Marija; Rakobradović, Jelena ; Branković-Magić, Mirjana  ; Bolz, Hanno J.; Pazour, Gregory J.; Beales, Philip L.; Scambler, Peter J.; Saunier, Sophie; Mitchison, Hannah M.; Bergmann, Carsten;
Issue Date: 2013
Publication: Human Mutation
ISSN: 1059-7794 Human Mutation Search Idenfier
Type: Article
Collation: vol. 34 br. 5 str. 714-724
DOI: 10.1002/humu.22294
WoS-ID: 000317610500005
Scopus-ID: 2-s2.0-84876338226
PMID: 23418020
PMCID: PMC4226634
URI: https://enauka.gov.rs/handle/123456789/210026
Metadata source: Migrirano iz RIS podataka
M-category: 
21aM21a

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