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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: American Society of Nephrology 2013
Sujets:
Basic Research
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires