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Taiwanese Journal of Obstetrics and Gynecology
Volume 44, Issue 1
, Pages 52-56
, March 2005
Prenatal Diagnosis of Classical Phenylketonuria with Polymerase Chain Reaction, Automatic Sequencing, and Linkage Analysis with Short Tandem Repeats
References
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- Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe . Hum Mol Genet . 1993;2:1703–1707
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- Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus . Hum Mutat . 2003;21:379–386
- Genetic diversity within the R408W phenylketonuria mutation lineage in Europe . Hum Mutat . 2003;21:387–393
- . The molecular basis of phenylketonuria in Latvia . Hum Mutat . 2003;21:398–399
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- Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation . Hum Mutat . 2003;21:345–356
PII: S1028-4559(09)60107-8
doi: 10.1016/S1028-4559(09)60107-8
© 2005 Taiwan Association of Obstetric & Gynecology. Published by Elsevier Inc. All rights reserved.
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Taiwanese Journal of Obstetrics and Gynecology
Volume 44, Issue 1
, Pages 52-56
, March 2005
