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Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
Authors: Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-03-17
Title of Journal: Human Mutation
Volume: 25
Issue / Number: 4
Start Page: 411
End Page: 411
Document Type: Article
ID: 271580.0
 
Full text / Content available
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
Authors: Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-03-17
Title of Journal: Human Mutation
Volume: 25
Issue / Number: 4
Start Page: 411
End Page: 411
Document Type: Article
ID: 272860.0
 
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: 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
 
Full text / Content available
Entries: 1-4  
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