scholarly journals Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

2018 ◽  
Vol 39 (11) ◽  
pp. 1569-1580 ◽  
Author(s):  
Diane B. Zastrow ◽  
Heather Baudet ◽  
Wei Shen ◽  
Amanda Thomas ◽  
Yue Si ◽  
...  
Keyword(s):  
Working Group ◽  
Inborn Errors Of Metabolism ◽  
Phenylalanine Hydroxylase ◽  
Sequence Variant ◽  
Variant Interpretation ◽  
Inborn Errors ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene

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

Introduction to Recombinant DNA

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 408-411
Author(s):  
Stephen D. Cederbaum
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Recombinant Dna ◽  
Phenylalanine Hydroxylase ◽  
Professional Lives ◽  
Recombinant Dna Technology ◽  
Inborn Errors ◽  
Dna Technology ◽  
Basic Vocabulary ◽  
The Moment ◽  
The Many

Seldom has a scientific or biomedical break-through evoked the awe, controversy, or sheer incredulity that has accompanied the developments in the field of recombinant DNA technology or more popularly, gene cloning and genetic engineering. Now little more than one generation after Avery, et al1 demonstrated that genes were encoded in DNA and Watson and Crick2 interpreted the structure of these molecules, genes are being cut, manipulated, and recombined to produce unprecedented new insights into genetics and molecular biology and the prospect of gene therapy. These developments have not occurred without anxiety to both scientists and laymen. At the moment, neither the most apocalyptic fears nor the most optimistic dreams appear to be imminent, although I believe that the dreams are closer to fulfillment than the fears. Recombinant DNA technology is already having great impact in hematology, oncology, endocrinology, immunology, and infectious disease and will soon play an important role in other medical subspecialities as well. In none, however, will it have quite the same impact as in genetics because DNA is the material that genetics "is all about." The cloning and study of phenylalanine hydroxylase is one of the first instances in which this technology has important implications in the diseases traditionally classified as inborn errors of metabolism. In order to understand and appreciate the presentation by Woo on phenylalanine hydroxylase as well as the many future papers that will play so vital a role in all of our professional lives, it is necessary to acquire the basic vocabulary of the field.

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
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