Genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) carrier status by restriction analysis and directed mutagenesis.
Torres
R J
RJ
Division of Clinical Biochemistry, La Paz Hospital, Madrid, Spain.
Buño
A
A
Molano
J
J
Mateos
F A
FA
Puig
J G
JG
D015193:Chorionic Villi Sampling; D017931:DNA Primers; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D015183:Restriction Mapping; D013030:Spain
D017931:DNA Primers; D007041:Hypoxanthine Phosphoribosyltransferase