Concepedia

Molecular characterization of phenylketonuria in Japanese patients

Y Okano, Minoru Asada, Youngbo Kang, Yasuaki Nishi, Yutaka Hase, Toshiaki Oura, Gen Isshiki

Human Genetics · 1998 · 50 citations · 22 references

DOI

Concepts

References

22

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

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A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Per Guldberg, Françoise Rey, Johannes Zschocke et al. · The American Journal of Human Genetics · 1998 · 357 citations · Full text

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Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

Yoshiyuki Okano, Randy C. Eisensmith, Flemming Güttler et al. · New England Journal of Medicine · 1991 · 239 citations

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Molecular Analysis of Phenylketonuria in Denmark: 99% of the Mutations Detected by Denaturing Gradient Gel Electrophoresis

Per Guldberg, Karen Friis Henriksen, Flemming Güttler · Genomics · 1993 · 166 citations

, , +9

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Per Guldberg, Harvey L. Levy, WB Hanley et al. · PubMed · 1996 · 84 citations

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