A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome.
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Viral infection and human disease--insights from minimotifsGenotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
P2860
A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome.
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2003 nî lūn-bûn
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name
A novel point mutation (I137T) ...... riant of Lesch-Nyhan syndrome.
@en
type
label
A novel point mutation (I137T) ...... riant of Lesch-Nyhan syndrome.
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prefLabel
A novel point mutation (I137T) ...... riant of Lesch-Nyhan syndrome.
@en
P2093
P1476
A novel point mutation (I137T) ...... riant of Lesch-Nyhan syndrome.
@en
P2093
Esther Zoref-Shani
Joel Hirsch
Sofia Feinstein
Yaacov Frishberg
Yael Bromberg
P304
P356
10.1016/S1096-7192(03)00002-7
P577
2003-02-01T00:00:00Z