Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation

Alagille syndrome (AGS) is an autosomal-dominant multi-organ disorder involving the liver, heart, eyes, face and skeleton. In addition, various renal abnormalities have also been reported in several cases. We describe a patient with a novel frameshift mutation in exon 12 of the JAG1 gene who present...

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Detaylı Bibliyografya
Yayımlandı:Clin Kidney J
Asıl Yazarlar: Hayashi, Norifumi, Okuyama, Hiroshi, Matsui, Yuki, Yamaya, Hideki, Kinoshita, Eriko, Minato, Hiroshi, Niida, Yo, Yokoyama, Hitoshi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2013
Konular:
Original Contributions
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4400474/
https://ncbi.nlm.nih.gov/pubmed/26064488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sft027
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