In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations

1995 ◽  
Vol 154 (7) ◽  
pp. 551-556 ◽  
Author(s):  
P. Guldberg ◽  
Ingrid Mikkelsen ◽  
Karen F. Henriksen ◽  
Hans C. Lou ◽  
F. G�ttler
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Phenylalanine Loading ◽  
In Vivo Assessment

Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

Biochemistry ◽  
1992 ◽  
Vol 31 (35) ◽  
pp. 8363-8368 ◽  
Author(s):  
David S. Konecki ◽  
Yibin Wang ◽  
Friedrich K. Trefz ◽  
Uta Lichter-Konecki ◽  
Savio L. C. Woo
Keyword(s):  
Structural Characterization ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Human Phenylalanine Hydroxylase

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene

1990 ◽  
Vol 85 (1) ◽  
Author(s):  
FriedrichK. Trefz ◽  
M. Yoshino ◽  
A. Nishiyori ◽  
Frank Aengeneyndt ◽  
Brigitte Schmidt-Mader ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene

A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia

1993 ◽  
Vol 2 (7) ◽  
pp. 1061-1062 ◽  
Author(s):  
Per Guldberg ◽  
Hans C.Lou ◽  
Karen Frils Henriksen ◽  
Ingrld Mlkkelsen ◽  
Blrgltte Olsen ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene

Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria

1994 ◽  
Vol 3 (4) ◽  
pp. 675-676 ◽  
Author(s):  
Paule Bénit ◽  
Françolse Rey ◽  
Dominique Melle ◽  
Arnold Munnich ◽  
Jean Rey
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Frame Shift ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene
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