Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Adenin phosphoribosyltransferase

The APRT gene encodes a protein essential for the proper catabolism of nucleic acids. Mutations cause the autosomal recessive 2,8-dihydroxyadenine urolithiasis.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Dihydroxyadenin urolithiasis



Mimori A et al. (1991) A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.

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Kamatani N et al. (1989) Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.

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Hidaka Y et al. (1987) Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

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Menardi C et al. (1997) Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.

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OMIM.ORG article

Omim 102600 external link

NCBI article

NCBI 353 external link

Orphanet article

Orphanet ID 121400 external link

Wikipedia article

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