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Hereditary nephropathy (HN) is a progressive fatal renal disease, also known as renal cortical hypoplasia and familial nephropathy (FN).
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Hereditary nephropathy (HN) is a progressive fatal renal disease, also known as renal cortical hypoplasia and familial nephropathy (FN). This disease is caused by a mutation in the COL4A4 gene which leads to a defect in the glomerular basement membrane (GBM). This defect causes a disruption in the function and structure of kidneys.
Caratteristiche cliniche
Proteinuria, ipoalbuminemia, azotemia e insufficienza renale progressiva.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 22369189
Omia ID: 710