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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Nephrology 2013
主題:
Basic Research
オンライン･アクセス: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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