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URL: http://scholar.google.com/scholar_lookup?title=Genetic+basis+of+inosine+triphosphate+pyrophosphohydrolase+deficiency&year=2002&author=Sumi&journal=Hum+Genet&volume=111&issue=4-5&pages=360-367&doi=10.1007%2Fs00439-002-0798-z&pmid=12384777