Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations
about
Attenuated variants of Lesch-Nyhan diseaseMechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.Genotype-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.Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant.
P2860
Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations
description
2000 nî lūn-bûn
@nan
2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@ast
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@en
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@nl
type
label
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@ast
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@en
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@nl
prefLabel
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@ast
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@en
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@nl
P2093
P1476
Kelley-Seegmiller syndrome due ...... gical substrate concentrations
@en
P2093
E Zoref-Shani
S Feinstein
Y Bromberg
Y Frishberg
P304
P356
10.1016/S0925-4439(99)00103-9
P407
P577
2000-02-21T00:00:00Z