Article
Back to the future: from genome to metabolome.
Human mutation - 1 May 2012
Thakuria Joseph V, Zaranek Alexander W, Church George M, Berry Gerard T
Abstract excerpt
In the traditional medical genetics setting, metabolic disorders, identified either clinically or through biochemical screening, undergo subsequent single gene testing to molecularly confirm diagnosis, provide further insight on natural disease history, and inform on disease management, treatment, familial testing, and reproductive options. For decades now, this process has been responsible for saving many lives...
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