The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/PL00014253.pdf
Reference27 articles.
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2. DiLella AG, Kwok SCM, Ledley FD, Marvit J, Woo SCL (1986) Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25:743–749
3. DiLella AG, Marvit J, Lidsky AS, Guttler F, Woo SLC (1986) Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799–803
4. DiLella AG, Marvit J, Brayton K, Woo SLC (1987) An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327:333–336
5. Eiken HG, Stangeland K, Skjelvåle L, Knappskog PM, Boman H, Apold J (1992) PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics. Hum Genet 88: 608–612
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