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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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| Vydáno v: | Clin Kidney J |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2013
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| Témata: | |
| On-line přístup: | 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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