Clinical utility gene card for: Lesch-Nyhan syndrome.
Torres
Rosa J
RJ
Biochemistry Laboratory, IdiPAZ- Instituto de Investigación Sanitaria del Hospital Universitario La Paz-Universidad Autónoma de Madrid, La Paz Hospital, Paseo de la Castellana, Madrid, Spain. rtorres.hulp@salud.madrid.org
Puig
Juan G
JG
Ceballos-Picot
Irène
I
D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity
D007041:Hypoxanthine Phosphoribosyltransferase