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

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

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

scholarly journals Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

1998 ◽  
Vol 63 (2) ◽  
pp. 329-338 ◽  
Author(s):  
Hans R. Waterham ◽  
Frits A. Wijburg ◽  
Raoul C.M. Hennekam ◽  
Peter Vreken ◽  
Bwee Tien Poll-The ◽  
...  
Keyword(s):  
Reductase Gene ◽  
Opitz Syndrome

scholarly journals Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome

2001 ◽  
Vol 65 (3) ◽  
pp. 229-236 ◽  
Author(s):  
P. E. JIRA ◽  
R. J. A. WANDERS ◽  
J. A. M. SMEITINK ◽  
J. JONG ◽  
R. A. WEVERS ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Reductase Gene ◽  
Opitz Syndrome
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