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

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

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

scholarly journals Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria

2018 ◽  
Vol 32 (1) ◽  
pp. 119-123 ◽  
Author(s):  
Mahsa Rastegar Moghadam ◽  
Azadeh Shojaei ◽  
Vahid Babaei ◽  
Farzaneh Rohani ◽  
Farideh Ghazi
Keyword(s):  
Mutation Analysis ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Iranian Patients

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

Biochemistry ◽  
1986 ◽  
Vol 25 (4) ◽  
pp. 743-749 ◽  
Author(s):  
Anthony G. DiLella ◽  
Simon C. M. Kwok ◽  
Fred D. Ledley ◽  
Joshua Marvit ◽  
Savio L. C. Woo
Keyword(s):  
Molecular Structure ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Human Phenylalanine Hydroxylase

scholarly journals Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China

2012 ◽  
Vol 35 (4) ◽  
pp. 709-713 ◽  
Author(s):  
Yong-An Zhou ◽  
Yun-Xia Ma ◽  
Quan-Bin Zhang ◽  
Wei-Hua Gao ◽  
Jian-Ping Liu ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene
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