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Characterization of Mutations at the Mouse Phenylalanine Hydroxylase Locus

✍ Scribed by J.David McDonald; Cynthia K. Charlton

Book ID
115613641
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
178 KB
Volume
39
Category
Article
ISSN
0888-7543

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Communicated by Savio L. C. Woo Mutations at the phenylalanine hydroxylase (PAH) locus are the major cause of hyperphenylalaninemia. We have previously described four mutations (MlV, IVS12nt1, R408W, and S349P) at the PAH locus in French Canadians with ancestry in eastern Quebec. Here we report (1)