The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

The genetic and functional basis of phosphoribosylpyrophosphate synthetase (PRS) superactivity associated with purine nucleotide inhibitor-resistance was studied in six families with this X chromosome-linked purine metabolic and neurodevelopmental disorder. Cloning and sequencing of PRS1 and PRS2 cD...

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Detaylı Bibliyografya

Yayımlandı:	J Clin Invest
Asıl Yazarlar:	Becker, M A, Smith, P R, Taylor, W, Mustafi, R, Switzer, R L
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	American Society for Clinical Investigation 1995
Konular:	Research Article
Online Erişim:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC185862/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7593598/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118267
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