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

This study reports the first demonstration of specific mutations leading to human adenine phosphoribosyltransferase (APRT) deficiency. The molecular basis of the deficiency was investigated by determining the sequence of both alleles of a patient with a complete deficiency in APRT activity. A trinuc...

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Detalhes bibliográficos
Main Authors: Hidaka, Y, Palella, T D, O'Toole, T E, Tarlé, S A, Kelley, W N
Formato: Artigo
Idioma:Inglês
Publicado em: 1987
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC442397/
https://ncbi.nlm.nih.gov/pubmed/3680503
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