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Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28.
Hum Genet. 2011.
PMID: 20981450
Free PMC article.
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Ea HK, Bardin T, Jinnah HA, Aral B, Lioté F, Ceballos-Picot I.
Ea HK, et al.
Arthritis Rheum. 2009 Jul;60(7):2201-4. doi: 10.1002/art.24617.
Arthritis Rheum. 2009.
PMID: 19565499
Free PMC article.
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