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Human hypoxanthine-guanine phosphoribosyltransferase.
A mutant form of human hypoxanthine-guanine phosphoribosyltransferase (HPRTToronto) was isolated from erythrocytes of a male patient with gout due to a partial deficiency of enzyme activity. The tryptic peptides of HPRTToronto were mapped by reverse-phase high pressure liquid chromatography in an attempt to define the precise abnormality in its primary structure. Sequence analysis of the single aberrant peptide in HPRTToronto revealed an arginine to glycine amino acid substitution at position 50. A single nucleotide change in the codon for arginine 50 (CGA leads to GGA) could explain this substitution.
PMID: 6853490 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).
Saraiva MJ, Birken S, Costa PP, Goodman DS.
J Clin Invest. 1984 Jul; 74(1):104-19.
[J Clin Invest. 1984]
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Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.
Melton DW, Konecki DS, Brennand J, Caskey CT.
Proc Natl Acad Sci U S A. 1984 Apr; 81(7):2147-51.
[Proc Natl Acad Sci U S A. 1984]
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Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
Wilson JM, Frossard P, Nussbaum RL, Caskey CT, Kelley WN.
J Clin Invest. 1983 Sep; 72(3):767-72.
[J Clin Invest. 1983]
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