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

Single Base Substitution ◽

Base Substitution ◽

Hydroxylase Deficiency ◽

Single Base ◽

Hydroxylase Gene ◽

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

Biochemistry ◽

10.1021/bi00150a033 ◽

1992 ◽

Vol 31 (35) ◽

pp. 8363-8368 ◽

Cited By ~ 28

Author(s):

David S. Konecki ◽

Yibin Wang ◽

Friedrich K. Trefz ◽

Uta Lichter-Konecki ◽

Savio L. C. Woo

Keyword(s):

Structural Characterization ◽

Hydroxylase Gene ◽

4965190 Methods for the identification of mutations in the human phenylalanine hydroxylase gene using DNA probes

Biotechnology Advances ◽

10.1016/0734-9750(91)90633-7 ◽

1991 ◽

Vol 9 (1) ◽

pp. 120

Keyword(s):

Dna Probes ◽

Hydroxylase Gene ◽

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

Biochemistry ◽

10.1021/bi00352a001 ◽

1986 ◽

Vol 25 (4) ◽

pp. 743-749 ◽

Cited By ~ 107

Author(s):

Anthony G. DiLella ◽

Simon C. M. Kwok ◽

Fred D. Ledley ◽

Joshua Marvit ◽

Savio L. C. Woo

Keyword(s):

Molecular Structure ◽

Hydroxylase Gene ◽

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

Human Molecular Genetics ◽

10.1093/hmg/2.5.577 ◽

1993 ◽

Vol 2 (5) ◽

pp. 577-581 ◽

Cited By ~ 45

Author(s):

Alexei A. Goltsov ◽

Randy C. Eisensmith ◽

Eileen R. Naughton ◽

Li Jin ◽

Ranajit Charkraborty ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Carrier Screening ◽

Hydroxylase Gene ◽

Str System

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

Human Mutation ◽

10.1002/humu.1380010209 ◽

1992 ◽

Vol 1 (2) ◽

pp. 138-146 ◽

Cited By ~ 10

Author(s):

Bernd Dworniczak ◽

Luba Kalaydjieva ◽

Sabine Pankoke ◽

Christa Aulehla-Scholz ◽

Gregory Allen ◽

...

Keyword(s):

Hot Spot ◽

Hydroxylase Gene ◽

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

Clinica Chimica Acta ◽

10.1016/j.cca.2005.09.019 ◽

2006 ◽

Vol 365 (1-2) ◽

pp. 279-287 ◽

Cited By ~ 15

Author(s):

Sang-Wun Kim ◽

Jongsun Jung ◽

Hyun-Jeong Oh ◽

Jihong Kim ◽

Kwang-Soo Lee ◽

...

Keyword(s):

Hydroxylase Gene ◽

Functional Analyses

Independent origin of rare Y168H mutation of human phenylalanine hydroxylase gene in Russia

Russian Journal of Genetics ◽

10.1134/s1022795408100165 ◽

2008 ◽

Vol 44 (10) ◽

pp. 1246-1248

Author(s):

E. V. Brenner ◽

F. O. Smagulova ◽

I. V. Morozov

Keyword(s):

Hydroxylase Gene ◽

Independent Origin ◽

‘Broad-range’ DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene

Nucleic Acids Research ◽

10.1093/nar/22.5.880 ◽

1994 ◽

Vol 22 (5) ◽

pp. 880-881 ◽

Cited By ~ 42

Author(s):

Per Guldberg ◽

Flemming Güttler

Keyword(s):

Single Step ◽

Mutation Scanning ◽

Hydroxylase Gene ◽

DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

Human Genetics ◽

10.1007/bf00208290 ◽

1994 ◽

Vol 94 (3) ◽

Cited By ~ 5

Author(s):

Uta Lichter-Konecki ◽

Magdalena Schlotter ◽

DavidS. Konecki

Keyword(s):

Dna Sequence ◽

Hydroxylase Gene ◽

Sequence Polymorphisms

Identification of hepatic nuclear factor 1 binding sites in the 5' flanking region of the human phenylalanine hydroxylase gene: Implication of a dual function of phenylalanine hydroxylase stimulator in the phenylalanine hydroxylation system

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.95.4.1500 ◽

1998 ◽

Vol 95 (4) ◽

pp. 1500-1504 ◽

Cited By ~ 15

Author(s):

X.-D. Lei ◽

S. Kaufman

Keyword(s):

Binding Sites ◽

Dual Function ◽

Nuclear Factor ◽

Hydroxylase Gene ◽

Flanking Region ◽

Hepatic Nuclear Factor 1 ◽

Nuclear Factor 1