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