Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Hereditary FSGS type 1 is an autosomal dominant disorder caused by mutations of the ACTN4 gene.
| 1. |
Winn MP et al. (1999) Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. 
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| 2. |
Kaplan JM et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
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| 3. |
Winn MP et al. (1999) Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.
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| 4. |
Tejani A et al. (1983) Familial focal segmental glomerulosclerosis.
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| 5. |
Conlon PJ et al. (1995) Clinical and pathologic features of familial focal segmental glomerulosclerosis.
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| 6. |
Faubert PF et al. (1997) Familial focal segmental glomerulosclerosis: nine cases in four families and review of the literature.
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| 7. |
Mathis BJ et al. (1998) A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13.
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| 8. |
OMIM.ORG article Omim 603278
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