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Title:

Genetic causes and therapy in Alport Syndrome

Document type:
Article
Author(s):
Gross, Oliver; Hoefele, Julia
Abstract:
Patients with the hereditary disease Alport syndrome (AS) develop progressive renal fibrosis due to variants in type IV collagen genes. In the first years of life, AS starts with hematuria and proteinuria, finally leading to end-stage renal disease and extrarenal symptoms such as hearing impairment and ocular changes. Variants in three different genes can cause AS, COL4A5 (X-chromosomal) in 85%, COL4A3 or COL4A4 (autosomal) in 10%, and digenic variants in less than 5% of the cases. In the past,...     »
Journal title abbreviation:
Med. Genet.
Year:
2018
Journal volume:
30
Journal issue:
4
Pages contribution:
429-437
Fulltext / DOI:
doi:10.1007/s11825-018-0214-2
Print-ISSN:
1863-5490
TUM Institution:
Institut für Humangenetik
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