Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Hereditary FSGS type 1

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

Systematic

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
ACTN4
Hereditary FSGS type 2
Hereditary FSGS type 3
Hereditary FSGS type 4
Hereditary FSGS type 5
Hereditary FSGS type 6
Hereditary FSGS type 7
Hereditary FSGS type 8
Hereditary FSGS type 9
ITGA9
LAMA5
NXF5

References:

1.

Ambrosio R et al. (2002) The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.

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2.

Burchell A et al. (1991) Diagnosis of type 1B and 1C glycogen storage disease.

external link
3.

None (1990) Molecular pathology of glucose-6-phosphatase.

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4.

Burchell A et al. (1987) Diagnosis of type 1a and type 1c glycogen storage diseases in adults.

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5.

Nordlie RC et al. (1983) Type Ic, a novel glycogenosis. Underlying mechanism.

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6.

NCBI article

NCBI 57379 external link
7.

OMIM.ORG article

Omim 233100 external link
8.

Wikipedia article

Wikipedia EN (Renal_glycosuria) external link
Update: Aug. 14, 2020
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