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pro vyhledávání: '"Daniel J. Pace-Farr"'
Autor:
Teri L. Koerner, Armon M. Green, Daniel J. Pace-Farr, Colton M. Zeitler, Matthew B. Schwartz, Mary Jo F. Kutler
Publikováno v:
Rare, Vol 2, Iss , Pp 100025- (2024)
Purpose: Snyder-Robinson syndrome (SRS) is a rare, X-linked condition caused by loss of function variants in the SMS gene, which codes for spermine synthase, an enzyme essential for synthesis of the polyamine spermine [1]. It is speculated that polya
Externí odkaz:
https://doaj.org/article/3f4eeae6110a4fd0b2712da2a2145344
