mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome
mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome
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Author / Creator
Schlingmann, Karl P , Jouret, François , Shen, Kuang , Nigam, Anukrati , Arjona, Francisco J , Dafinger, Claudia , Houillier, Pascal , Jones, Deborah P , Kleinerüschkamp, Felix , Oh, Jun , Godefroid, Nathalie , Eltan, Mehmet , Güran, Tülay , Burtey, Stéphane , Marie-Christine Parotte , König, Jens , Braun, Alina , Bos, Caro , Maria Ibars Serra , Rehmann, Holger , Fried Jt Zwartkruis , Renkema, Kirsten Y , Klingel, Karin , Schulze-Bahr, Eric , Schermer, Bernhard , Bergmann, Carsten , Altmüller, Janine , Thiele, Holger , Beck, Bodo B , Dahan, Karin , Sabatini, David , Liebau, Max C , Vargas-Poussou, Rosa , Nine Vam Knoers , Martin, Konrad and Jeroen Hf De Baaij
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Contents
ABSTRACT Background Over the last decaces, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Nevertheless, ±20% of all tubulopathy patients remain without genetic diagnosis. Here, we explore a large multicentric patient cohort with a novel inherited salt-losing tubu...
Alternative Titles
Full title
mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome
Authors, Artists and Contributors
Author / Creator
Jouret, François
Shen, Kuang
Nigam, Anukrati
Arjona, Francisco J
Dafinger, Claudia
Houillier, Pascal
Jones, Deborah P
Kleinerüschkamp, Felix
Oh, Jun
Godefroid, Nathalie
Eltan, Mehmet
Güran, Tülay
Burtey, Stéphane
Marie-Christine Parotte
König, Jens
Braun, Alina
Bos, Caro
Maria Ibars Serra
Rehmann, Holger
Fried Jt Zwartkruis
Renkema, Kirsten Y
Klingel, Karin
Schulze-Bahr, Eric
Schermer, Bernhard
Bergmann, Carsten
Altmüller, Janine
Thiele, Holger
Beck, Bodo B
Dahan, Karin
Sabatini, David
Liebau, Max C
Vargas-Poussou, Rosa
Nine Vam Knoers
Martin, Konrad
Jeroen Hf De Baaij
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Primary Identifiers
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TN_cdi_proquest_journals_2504960515
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2504960515
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/2021.03.11.434334
How to access this item
https://www.proquest.com/docview/2504960515?pq-origsite=primo&accountid=13902
