A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

1993 ◽  
Vol 2 (5) ◽  
pp. 577-581 ◽  
Author(s):  
Alexei A. Goltsov ◽  
Randy C. Eisensmith ◽  
Eileen R. Naughton ◽  
Li Jin ◽  
Ranajit Charkraborty ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Phenylalanine Hydroxylase ◽  
Carrier Screening ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Human Phenylalanine Hydroxylase ◽  
Str System

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

Nature ◽  
1983 ◽  
Vol 306 (5939) ◽  
pp. 151-155 ◽  
Author(s):  
Savio L. C. Woo ◽  
Alan S. Lidsky ◽  
Flemming Güttler ◽  
T. Chandra ◽  
Kathryn J. H. Robson
Keyword(s):  
Prenatal Diagnosis ◽  
Phenylalanine Hydroxylase ◽  
Carrier Detection ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Human Phenylalanine Hydroxylase ◽  
Classical Phenylketonuria

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

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

Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?

1992 ◽  
Vol 1 (2) ◽  
pp. 138-146 ◽  
Author(s):  
Bernd Dworniczak ◽  
Luba Kalaydjieva ◽  
Sabine Pankoke ◽  
Christa Aulehla-Scholz ◽  
Gregory Allen ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hot Spot ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Human Phenylalanine Hydroxylase

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene

2006 ◽  
Vol 365 (1-2) ◽  
pp. 279-287 ◽  
Author(s):  
Sang-Wun Kim ◽  
Jongsun Jung ◽  
Hyun-Jeong Oh ◽  
Jihong Kim ◽  
Kwang-Soo Lee ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Human Phenylalanine Hydroxylase ◽  
Functional Analyses

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

Biochemistry ◽  
1988 ◽  
Vol 27 (8) ◽  
pp. 2881-2885 ◽  
Author(s):  
Uta Lichter-Konecki ◽  
David S. Konecki ◽  
Anthony G. DiLella ◽  
Kelly Brayton ◽  
Joshua Marvit ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Single Base Substitution ◽  
Base Substitution ◽  
Hydroxylase Deficiency ◽  
Single Base ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Human Phenylalanine Hydroxylase
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