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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
APRT
gene.
Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010 Apr;21(4):679-88. doi: 10.1681/ASN.2009080808. Epub 2010 Feb 11.
PubMed citation
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency. Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. Epub 2012 Jun 14. Review.
PubMed citation
Entrez
Gene
OMIM:
ADENINE PHOSPHORIBOSYLTRANSFERASE
Silva M, Silva CH, Iulek J, Thiemann OH. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. Biochemistry. 2004 Jun 22;43(24):7663-71.
PubMed citation
Reviewed: October 2012
Published: June 17, 2013
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