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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Główni autorzy: 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
Język:Inglês
Wydane: American Society of Nephrology 2013
Hasła przedmiotowe:
Basic Research
Dostęp online: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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