title: Carrier state in HGPRT deficiency. A study in 14 Spanish families.
authors.affiliation: Division of Clinical Biochemistry, La Paz Hospital, Madrid, Spain.
authors.forename: R J
authors.initials: RJ
authors.lastname: Torres
authors.forename: A
authors.initials: A
authors.lastname: Buño
authors.forename: F A
authors.initials: FA
authors.lastname: Mateos
authors.forename: J G
authors.initials: JG
authors.lastname: Puig
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000032:analysis; D000328:Adult; D002648:Child; D005260:Female; D005333:Fetus; D005347:Fibroblasts / Q000201:enzymology; D006580:Genetic Carrier Screening; D018859:Hair Follicle / Q000201:enzymology*; D006720:Homozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000032:analysis / Q000172:deficiency*; D008297:Male; D010375:Pedigree; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D015203:Reproducibility of Results; D012307:Risk Factors; D012867:Skin / Q000201:enzymology; D013030:Spain
chemical_list: D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase