Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: Characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01802034
Reference38 articles.
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2. Chasin, L. A. and Urlaub, G. Mutant alleles for hypoxanthine phosphoribosyltransferase: codominant expression, complementation and segregation in hybrid Chinese hamster cells.Somat. Cell Gen. 2 (1976) 453–467
3. Fox, I. H., Dwosh, I. L., Marchant, P. J., Lacroix, S., Moore, M. R., Mura, S. O. and Wyhofsky, V. Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.J. Clin. Invest. 56 (1975) 1239–1249
4. Gibbs, D. A., Headhouse-Benson, C. M. and Watts, R. W. E. Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.J. Inher. Metab. Dis. 9 (1986) 45–57
5. Gordon, D. A., Emmerson, B. T., Stout, J. T. and Caskey, C. T. Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.Aust. N.Z. J. Med. 17 (1987) 424–429
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1. Association between Cigarette Smoking and Hypoxanthine Guanine Phosphoribosyltransferase Activity;The Kaohsiung Journal of Medical Sciences;2005-11
2. Gene amplification and dual point mutations of mouse IMP dehydrogenase associated with cellular resistance to mycophenolic acid;Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression;1994-03
3. Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities;Human Molecular Genetics;1994
4. The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction;Human Genetics;1992-03
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