ScienceOpen:
research and publishing network
For Publishers
Discovery
Metadata
Peer review
Hosting
Publishing
For Researchers
Join
Publish
Review
Collect
My ScienceOpen
Sign in
Register
Dashboard
Blog
About
Search
Advanced search
My ScienceOpen
Sign in
Register
Dashboard
Search
Search
Advanced search
For Publishers
Discovery
Metadata
Peer review
Hosting
Publishing
For Researchers
Join
Publish
Review
Collect
Blog
About
4
views
0
references
Top references
cited by
1
0 reviews
Review
0
comments
Comment
0
recommends
+1
Recommend
0
collections
Add to
0
shares
Share
Twitter
Sina Weibo
Facebook
Email
1,290
similar
All similar
Record
: found
Abstract
: not found
Article
: not found
Novel mutations in the delta-7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome
Author(s):
T Evans
,
E Poh
,
C Webb
,
B Wainwright
,
C Wicking
,
I. Glass
,
W Carey
,
M Fietz
,
I Glass John
Publication date:
2001
Read this article at
ScienceOpen
Bookmark
There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
Related collections
Genes & Diseases
Data availability:
ScienceOpen disciplines:
Molecular biology
,
Genetics
,
Life sciences
Comments
Comment on this article
Sign in to comment
Similar content
1,290
Isolation and structure elucidation of 22(S),23(S)-methylenecholesterol. Evidence for direct bioalkylation of 22-dehydrocholesterol
Authors:
Pierre Blanc
,
Carl Djerassi
Determination of 7-dehydrocholesterol in rat skin and liver by high-performance liquid chromatography
Authors:
K Takada
,
R Ito
,
K Tokunaga
…
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome
Authors:
LM Linck
,
DS Lin
,
D. Flavell
…
See all similar
Cited by
1
Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
Authors:
Fernanda B. Scalco
,
Paulo Otto
,
Iguatemy Brunetti
…
See all cited by