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Hereditary Cystatin C Amyloid Angiopathy: Genetic, Clinical, and Pathological Aspects
Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C, which is an inhibitor of several cysteine proteinases, such as cathepsins S, B, and K. The same mutation in cystatin C, l68Q, has been found in all patient...
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| Izdano u: | Brain Pathol |
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| Glavni autori: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Blackwell Publishing Ltd
2006
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8095917/ https://ncbi.nlm.nih.gov/pubmed/16612982 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2006.tb00561.x |
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