Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Hyperoxaluria type 2

The autosomal recessive oxalosis 2 is hyperoxaluria, oxalate nephrolithiasis and nephrocalcinosis due to mutations of the GRHPR gene.

Systematic

Hyperoxaluria
Hyperoxaluria type 1
Hyperoxaluria type 2
GRHPR
Hyperoxaluria type 3

References:

1.

Samuelsson B et al. (1988) Relative fertility and mutation rate in neurofibromatosis.

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2.

Miles J et al. (1969) Intrathoracic meningocele. Its development and association with neurofibromatosis.

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3.

Charron JW et al. (1970) Neurofibromatosis of bladder: case report and review of literature.

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4.

Pellock JM et al. (1980) Childhood hypertensive stroke with neurofibromatosis.

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5.

Fabricant RN et al. (1981) Increased serum levels of nerve growth factor in von Recklinghausen's disease.

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6.

Legius E et al. (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.

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7.

Denning GM et al. (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive.

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Update: Aug. 14, 2020
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