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Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1
Authors: Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M.S.; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise
Date of Publication (YYYY-MM-DD): 2008-11-12
Title of Journal: Human Mutation
Volume: 30
Issue / Number: 2
Start Page: E404
End Page: E420
Document Type: Article
ID: 411209.1
 
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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Authors: Otto, Edgar A; Loeys, Bart; Khanna, Hemant; Hellemans, Jan; Sudbrak, Ralf; Fan, Shuling; Muerb, Ulla; O'Toole, John F; Helou, Juliana; Attanasio, Massimo; Utsch, Boris; Sayer, John A; Lillo, Concepcion; Jimeno, David; Coucke, Paul; De Paepe, Anne; Reinhard, Richard; Klages, Sven; Tsuda, Motoyuki; Kawakami, Isao; Kusakabe, Takehiro; Omran, Heymut; Imm, Anita; Tippens, Melissa; Raymond, Pamela A; Hill, Jo; Beales, Phil; He, Shirley; Kispert, Andreas; Margolis, Benjamin; Williams, David S.; Swaroop, Anand; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-02-20
Title of Journal: Nature Genetics
Volume: 37
Issue / Number: 3
Start Page: 282
End Page: 288
Document Type: Article
ID: 272850.0
 
Full text / Content available
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Authors: Otto, Edgar A; Loeys, Bart; Khanna, Hemant; Hellemans, Jan; Sudbrak, Ralf; Fan, Shuling; Muerb, Ulla; O'Toole, John F; Helou, Juliana; Attanasio, Massimo; Utsch, Boris; Sayer, John A; Lillo, Concepcion; Jimeno, David; Coucke, Paul; De Paepe, Anne; Reinhard, Richard; Klages, Sven; Tsuda, Motoyuki; Kawakami, Isao; Kusakabe, Takehiro; Omran, Heymut; Imm, Anita; Tippens, Melissa; Raymond, Pamela A; Hill, Jo; Beales, Phil; He, Shirley; Kispert, Andreas; Margolis, Benjamin; Williams, David S.; Swaroop, Anand; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-02-20
Title of Journal: Nature Genetics
Volume: 37
Issue / Number: 3
Start Page: 282
End Page: 288
Document Type: Article
ID: 272853.0
 
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Entries: 1-3  
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