Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäre FSGS vom Typ 1

Hereditary FSGS type 1 is an autosomal dominant disorder caused by mutations of the ACTN4 gene.

Gliederung

Fokal segmentale Glomerulosklerose (FSGS)
ALG13
ARHGAP24
CLU
Hereditäre FSGS vom Typ 1
ACTN4
Hereditäre FSGS vom Typ 2
Hereditäre FSGS vom Typ 3
Hereditäre FSGS vom Typ 4
Hereditäre FSGS vom Typ 5
Hereditäre FSGS vom Typ 6
Hereditäre FSGS vom Typ 7
NXF5

Referenzen:

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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