A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon

More than 50 mutations in the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus have been described, yet only 2 alter the AUG initiation codon. One, variant HPRT1151, results in Lesch-Nyhan syndrome (LNS), and the other, HPRTIllinois, results in partial HPRT deficiency. Although prev...

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Veröffentlicht in:	Human genetics 1994-03, Vol.93 (3), p.300-304
Hauptverfasser:	DAVIDSON, B. L, GOLOVOY, N, ROESSLER, B. J
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Composition Base Sequence Biological and medical sciences Cell Line, Transformed Codon DNA Exons Humans Hypoxanthine Phosphoribosyltransferase - deficiency Hypoxanthine Phosphoribosyltransferase - genetics Lesch-Nyhan Syndrome - enzymology Lesch-Nyhan Syndrome - genetics Medical sciences Metabolic diseases Molecular Sequence Data Other metabolic disorders Protein Biosynthesis Purines and pyrimidines (gout, hyperuricemia...) Sequence Deletion Syndrome Transfection
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