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Mutation screening versus gene scanning for genotyping phenylketonuria patients

P. Guldberg and F. Güttler

Journal of Inherited Metabolic Disease, 1994, Volume 17, Number 3, Pages 359-361

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Journal Article

The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme

Per M. Knappskog, Hans Geir Eiken, Aurora Martinez, Torgeir Flatmark and Jaran Apold

Human Genetics, 1995, Volume 95, Number 2, Pages 171-173

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Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity

L. R. Desviat, B. Pérez and M. Ugarte

Journal of Inherited Metabolic Disease, 1996, Volume 19, Number 2, Pages 227-230

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Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry

J. K. Bayleran, Hailing Yan, Catherine A. Hopper and Elizabeth M. Simpson

Human Genetics, 1996, Volume 98, Number 2, Pages 207-209

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Genomic mapping and testing for quantitative trait loci in tea (Camellia sinensis (L.) O. Kuntze)

S. M. Kamunya, F. N. Wachira, R. S. Pathak, R. Korir and V. Sharma, et al.

Tree Genetics & Genomes, 2010, Volume 6, Number 6, Pages 915-929

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Journal Article

Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA

R. Kaul, R. Matalon, R. Allen, R. O. Fisch and K. Michals, et al.

Journal of Inherited Metabolic Disease, 1994, Volume 17, Number 3, Pages 356-358

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Journal Article

Preliminary mutation analysis in the phenylanaline hydroxylase gene in Greek PKU and HPA patients

J. Traeger-Synodinos, E. Kanavakis, M. Kalogerakou, K. Soulpi and S. Missiou-Tsangaraki, et al.

Human Genetics, 1994, Volume 94, Number 5, Pages 573-575

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Journal Article

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

E. Svensson, L. Iselius and L. Hagenfeldt

Journal of Inherited Metabolic Disease, 1994, Volume 17, Number 2, Pages 215-222

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Journal Article

Phenylketonuria mutations in southern Chinese detected by denaturing gradient gel electrophoresis in exon 7 of PAH gene

X. F. Gu, M. Zhang and R. G. Chen

Journal of Inherited Metabolic Disease, 1995, Volume 18, Number 6, Pages 753-754

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Journal Article

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

V. Romano, P. Guldberg, F. Güttler, C. Meli and F. Mollica, et al.

Journal of Inherited Metabolic Disease, 1996, Volume 19, Number 1, Pages 15-24

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