(Q24561674)

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Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

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Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme (English)

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author name string

Y Hidaka

1

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T D Palella

2

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T E O'Toole

3

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S A Tarlé

4

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W N Kelley

5

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language of work or name

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publication date

November 1987

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Journal of Clinical Investigation

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80

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5

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1409-15

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DNA sequencing with chain-terminating inhibitors

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[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]

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Purine enzyme abnormalities: a four year experience

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Complete deficiency of adenine phosphoribosyltransferase. Report of a family

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Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme

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Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia

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Human adenine phosphoribosyltransferase: characterization from subjects with a deficiency of enzyme activity

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Identifiers

10.1172/JCI113219

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