Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes-Reference-Cited by-同舟云学术

Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes

Published:1994 Issue:2 Volume:17 Page:215-222
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Svensson E.,Iselius L.,Hagenfeldt L.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF00711621

Reference27 articles.

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2. Armstrong MD, Stave U (1973b) A study of plasma free amino acid levels. III. Variations during growth and aging.Metabolism 22: 571?578.

3. Brown EA, Waisman HA, Swanson MA et al (1973) Effects of oral contraceptives and obesity on carrier tests for phenylketonuria.Clin Chim Acta 44: 183?192.

4. DiLella AG, Marvit J, Brayton K, Woo SLC (1987) An aminoacid subtitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.Nature 327: 799?803.

5. Economou-Petersen E, Friis Henriksen K, Guldberg P, Güttler F (1992) Molecular basis for nonphenylketonuria hyperphenylalaninemia.Genomics 14: 1?5.

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