Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations-Reference-Cited by-同舟云学术

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Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

Published:1999-12 Issue:8 Volume:7 Page:937-940
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

De Brasi D,Esposito T,Rossi M,Parenti G,Sperandeo MP,Zuppaldi A,Bardaro T,Ambruzzi MA,Zelante L,Ciccodicola A,Sebastio G,D'Urso M,Andria G

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200390.pdf

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Quantitative Proteomic Analysis of Skeletal Muscle Detergent- Resistant Membranes in a Smith-Lemli-Opitz Syndrome Mouse;Cholesterol - Good, Bad and the Heart;2018-08-08

2. Smith-Lemli-Opitz syndrome: clinical and biochemical correlates;Journal of Pediatric Endocrinology and Metabolism;2018-02-19

3. Pan-Cancer Mutational and Transcriptional Analysis of the Integrator Complex;International Journal of Molecular Sciences;2017-04-29

4. Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review;The Pharmacogenomics Journal;2016-07-12

5. Characterization of large deletions in theDHCR7gene;Clinical Genetics;2014-10-21

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