Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
about
Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan diseaseInfluence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan diseaseAttenuated variants of Lesch-Nyhan diseaseNovel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patientsLesch-Nyhan Disease.Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Lesch-Nyhan Syndrome: Models, Theories, and Therapies.Point mutations in the guanine phosphoribosyltransferase from Giardia lamblia modulate pyrophosphate binding and enzyme catalysis.Lesch-Nyhan disease with no HPRT1 gene mutation?Site promiscuity of coliphage HK022 integrase as a tool for gene therapy.HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.
P2860
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P2860
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
description
1992 nî lūn-bûn
@nan
1992 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Characterization of mutations ...... ribosyltransferase deficiency.
@ast
Characterization of mutations ...... ribosyltransferase deficiency.
@en
type
label
Characterization of mutations ...... ribosyltransferase deficiency.
@ast
Characterization of mutations ...... ribosyltransferase deficiency.
@en
prefLabel
Characterization of mutations ...... ribosyltransferase deficiency.
@ast
Characterization of mutations ...... ribosyltransferase deficiency.
@en
P2093
P356
P1476
Characterization of mutations ...... ribosyltransferase deficiency.
@en
P2093
P304
P356
10.1093/HMG/1.6.427
P577
1992-09-01T00:00:00Z