Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)
Author:
Affiliation:
1. ; Service de Néphrologie; Hôpital de la Conception; Marseille
2. Laboratoire de Biochimie Génétique; Hôpital; Necker Paris
3. ; Service de Génétique; Hôpital de la Timone-Enfants; Marseille France
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000037399.72152.a9/fullpdf
Reference9 articles.
1. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient;Aral;Hum Mutat,1996
2. The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP;Eads;Cell,1994
3. Identi?cation of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor);Fujimori;Hum Genet,1988
4. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases;Jinnah;Mutat Res,2000
5. Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency;Keough;J Inherit Metab Dis,1988
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