Article
HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.
Nucleosides, nucleotides & nucleic acids - 1 Dec 2011
Corrigan A, Arenas M, Escuredo E, Fairbanks L, Marinaki A
Abstract excerpt
Hypoxanthine phosphoribosyltranferase (HPRT) deficiency is an X-linked disorder of purine salvage that ranges phenotypically from hyperuricaemia to Lesch-Nyhan Syndrome. Molecular testing is necessary to identify female carriers within families as a prelude to prenatal diagnosis. During the period 1999-2010 the Purine Research Laboratory studied 106 patients from 68 different families. Genomic sequencing revealed...
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