Pages that link to "Q34031328"

The following pages link to Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE). (Q34031328):

Displaying 11 items.

• A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (Q33975820) (← links)
• Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification (Q34017096) (← links)
• The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases (Q34053177) (← links)
• Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene (Q35728033) (← links)
• 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 (Q38357069) (← links)
• Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency (Q38637548) (← links)
• Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities (Q41451543) (← links)
• Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line (Q41491314) (← links)
• The molecular characterisation of hprtchermside and HPRTcoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA (Q48195211) (← links)
• Role of W181 in modulating kinetic properties of Plasmodium falciparum hypoxanthine guanine xanthine phosphoribosyltransferase. (Q51602379) (← links)
• A Strategy for the Creation of Mutations in Human HPRT-cDNA and the Expression of Recombinant Proteins in E.Coli (Q54703901) (← links)