Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

2001 ◽  
Vol 103 (4) ◽  
pp. 344-347 ◽  
Author(s):  
Timothy Evans ◽  
Alisa Poh ◽  
Charlotte Webb ◽  
Brandon Wainwright ◽  
Carol Wicking ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Reductase Gene ◽  
Opitz Syndrome

scholarly journals Mutations in the  7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

1998 ◽  
Vol 95 (14) ◽  
pp. 8181-8186 ◽  
Author(s):  
B. U. Fitzky ◽  
M. Witsch-Baumgartner ◽  
M. Erdel ◽  
J. N. Lee ◽  
Y.-K. Paik ◽  
...  
Keyword(s):  
Reductase Gene ◽  
Opitz Syndrome

A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement

2009 ◽  
Vol 169 (1) ◽  
pp. 121-123 ◽  
Author(s):  
Gabriella P. Szabó ◽  
Anna V. Oláh ◽  
Libor Kozak ◽  
Erzsébet Balogh ◽  
Andrea Nagy ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Opitz Syndrome

A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly

2004 ◽  
Vol 315 (1) ◽  
pp. 219-223 ◽  
Author(s):  
Yhong-Hee Shim ◽  
Soo-Han Bae ◽  
Jai-Hyun Kim ◽  
Kyu-Rae Kim ◽  
Chong Jai Kim ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Novel Mutation ◽  
Reductase Gene

scholarly journals Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

2000 ◽  
Vol 66 (2) ◽  
pp. 402-412 ◽  
Author(s):  
M. Witsch-Baumgartner ◽  
B.U. Fitzky ◽  
M. Ogorelkova ◽  
H.G. Kraft ◽  
F.F. Moebius ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation ◽  
Reductase Gene ◽  
Opitz Syndrome

Novel mutation in the ?-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome

2002 ◽  
Vol 110 (2) ◽  
pp. 103-108 ◽  
Author(s):  
Marjan M. Nezarati ◽  
Judith Loeffler ◽  
Grace Yoon ◽  
Linda MacLaren ◽  
Ernest Fung ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Reductase Gene

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

2014 ◽  
Vol 129 ◽  
pp. 7-12 ◽  
Author(s):  
J. Koht ◽  
A. Rengmark ◽  
T. Opladen ◽  
K. A. Bjørnarå ◽  
T. Selberg ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Genetic Studies ◽  
Sepiapterin Reductase ◽  
Reductase Gene

scholarly journals Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

1998 ◽  
Vol 63 (1) ◽  
pp. 55-62 ◽  
Author(s):  
Christopher A. Wassif ◽  
Cheryl Maslen ◽  
Stivelia Kachilele-Linjewile ◽  
Don Lin ◽  
Leesa M. Linck ◽  
...  
Keyword(s):  
Reductase Gene ◽  
Opitz Syndrome
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