Mutation of the Mg(2+) Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype

Nephronophthisis (NPHP)-related ciliopathies are recessive, single-gene disorders that collectively make up the most common genetic cause of CKD in the first three decades of life. Mutations in 1 of the 15 known NPHP genes explain less than half of all cases with this phenotype, however, and the rec...

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Detalhes bibliográficos
Main Authors: Hurd, Toby W., Otto, Edgar A., Mishima, Eikan, Gee, Heon Yung, Inoue, Hana, Inazu, Masato, Yamada, Hideomi, Halbritter, Jan, Seki, George, Konishi, Masato, Zhou, Weibin, Yamane, Tsutomo, Murakami, Satoshi, Caridi, Gianluca, Ghiggeri, Gianmarco, Abe, Takaaki, Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2013
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3665398/
https://ncbi.nlm.nih.gov/pubmed/23661805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2012101034
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