Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation

Author: Johnston J. J.   Lichter-Konecki U.   Wilson E.   Cobb B. R.   Evans B. M.   Schnur R. E.   Wong L-J. C.  

Publisher: Springer Publishing Company

ISSN: 0141-8955

Source: Journal of Inherited Metabolic Disease, Vol.27, Iss.2, 2004-01, pp. : 157-163

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