Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity

Autor:	B J, Roessler, N, Golovoy, T D, Palella, S, Heidler, M A, Becker
Rok vydání:	1991
Předmět:	X Chromosome Base Sequence Gout Genetic Linkage DNA Mutational Analysis Mutation Ribose-Phosphate Pyrophosphokinase Humans Amino Acid Sequence DNA Uric Acid
Zdroj:	Advances in experimental medicine and biology.
ISSN:	0065-2598
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::e2aeba310e541d99c7db6a478cf94065 https://pubmed.ncbi.nlm.nih.gov/1664177 Zobrazit plný text záznamu