Výsledky vyhledávání - "S A, Heidler"

Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene

Autor: Michael Becker, Blake J. Roessler, Thomas D. Palella, J M Nosal, R L Switzer, S A Heidler, P R Smith

Publikováno v: Journal of Biological Chemistry. 268:26476-26481

Superactivity of phosphoribosylpyrophosphate synthetase (PRS) is an X chromosome-linked disorder of purine metabolism, characterized by gout with uric acid overproduction and, in some families, neurodevelopmental impairment. Two highly homologous iso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::477da9187a2372a716d39f6c9d4382c7
https://doi.org/10.1016/s0021-9258(19)74339-7

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Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene

Autor: B J, Roessler, J M, Nosal, P R, Smith, S A, Heidler, T D, Palella, R L, Switzer, M A, Becker

Publikováno v: The Journal of biological chemistry. 268(35)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::08b8c2e00ea28525270fa8fe89012155
https://pubmed.ncbi.nlm.nih.gov/8253776

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Human phosphoribosylpyrophosphate synthetase (PRS) 2: an independent active, X chromosome-linked PRS isoform

Autor: M A, Becker, S A, Heidler, J M, Nosal, R L, Switzer, M M, LeBeau, L J, Shapiro, T D, Palella, B J, Roessler

Publikováno v: Advances in experimental medicine and biology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a364a75194a88b7c6135fd4e64d2e180
https://pubmed.ncbi.nlm.nih.gov/1723569

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