✦ LIBER ✦

Genotype-phenotype correlations in phenylketonuria

✍ Scribed by Friedrich K. Trefz; Peter Burgard; Thomas König; Barbara Goebel-Schreiner; Uta Lichter-Konecki; David Konecki; Edzard Schmidt; Hildgund Schmidt; Horst Bickel

Book ID: 115827865
Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 377 KB
Volume: 217
Category: Article
ISSN: 0009-8981
DOI: 10.1016/0009-8981(93)90233-t

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Structural interpretation of mutations i

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

✍ Jennings, Ian G; Cotton, Richard GH; Kobe, Bostjan 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 930 KB

Genotype-phenotype correlations in pheny

Genotype-phenotype correlations in phenylalaninehydroxylase-deficiency (phenylketonuria)

✍ F. K. Trefz 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 109 KB

Phenylketonuria genotypes correlated to

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway

✍ H. G. Eiken; P. M. Knappskog; K. Motzfeldt; H. Boman; J. Apold 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 722 KB

Phenylketonuria: Genotype–phenotype corr

Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAH

✍ Angel L. Pey; Lourdes R. Desviat; Alejandra Gámez; Magdalena Ugarte; Belén Pérez 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 272 KB

When analyzed in the context of the phenylalanine hydroxylase (PAH) three-dimensional structure, only a minority of the PKU mutations described world-wide affect catalytic residues. Consistent with these observations, recent data point to defective folding and subsequent aggregation/degradation as a

Molecular and population genetics of phe

Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype

✍ Y. Okano; Y. Hase; D. -H. Lee; G. Takada; Y. Shigematsu; T. Oura; G. Isshiki 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 251 KB

Genotype/phenotype correlations in aniri

Genotype/phenotype correlations in aniridia

✍ Sanjoy K Gupta; Inge De Becker; François Tremblay; Duane L Guernsey; Paul E Neum 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 178 KB