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FAG |
About the gene encoding hypoxanthine phosphoribosyltransferase
(EC:2.4.2.8;
its defect causes Lesch-Nyhan syndrome) and about location of HPRT
pseudogenes, see GEM:0Xq261/HPRT1."
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REF |
CLO,LOC,EAG "Patel PI &: Somat Cell Mol Genet, 10, 483-493, 1984
CLO,LOC,EAG "see also GEM:0Xq261/HPRT1
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KEY |
neu, mtbd, nucm
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CLA |
psi, basic
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LOC |
11 q
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MIM |
MIM: 308000?
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Ссылки:
1. Gene: [03^/HPRTP1] hypoxanthine phosphoribosyltransferase pseudogene 1;
2. Gene: [0Xq261/HPRT1] hypoxanthine phosphoribosyltransferase 1 (deficiency: Lesch-Nyhan syndrome); hypoxanthine guanine phosphoribosyltransferase 1 (deficiency: Lesch-Nyhan syndrome); Lesch-Nyhan syndrome (HPRT deficiency);
3. HPRT Ген (Ген гипоксантин-гуанин фосфорибозилтрансферазы, ГФРТ)