Literature DB >> 8412009

Partial HGPRT-deficiency, pheochromocytoma and erythrocytosis.

I Kamilli1, U Gresser, B S Gathof, W Gröbner.   

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Year:  1993        PMID： 8412009     DOI： 10.1007/bf00710301

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.

Authors:  N F Cariello; J K Scott; A G Kat; W G Thilly; P Keohavong
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

2.  Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.

Authors:  J M Wilson; W N Kelley
Journal:  J Biol Chem       Date:  1984-01-10       Impact factor: 5.157

3.  [Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)].

Authors:  W Gröbner; N Zöllner
Journal:  Klin Wochenschr       Date:  1979-01-15
  3 in total

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