Partial characterization and three‐dimensional‐structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria
Open Access
- 1 October 1998
- journal article
- research article
- Published by Wiley in European Journal of Biochemistry
- Vol. 257 (1) , 1-10
- https://doi.org/10.1046/j.1432-1327.1998.2570001.x
Abstract
The molecular basis for the metabolic defect in patients with phenylketonuria has been characterized for seven missense point mutations (R252G/Q, L255V/S, A259V/T and R270S) and a termination mutatio...Keywords
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