|
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."
|
|
REF |
LIN,CYG,MOL "Overhauser &: AJHG, 39, 1-10, 1986
LIN,MAP "Weiffenbach B &: Genomics, 10, N1, 173-185, 1991
PRO,LOC,EAG "see GEM:0Xq261/HPRT1
|
|
KEY |
neu, mtbd, nucm
|
|
CLA |
psi, basic
|
|
LOC |
05 p14-13
|
|
MIM |
MIM: 308000?
|
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);