A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.
- DOI
- 10.1186/1750-1172-5-27
- Published
- 2010 Oct 6
- Container
- Orphanet journal of rare diseases
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
uncertain Score 53/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
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Cite this work
BibTeX
@article{allodium:10.1186/1750-1172-5-27,
title = {A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.},
author = {Schneider H and Lingesleben A and Vogel HP and Garuti R and Calandra S},
year = {2010},
journal = {Orphanet journal of rare diseases},
doi = {10.1186/1750-1172-5-27},
url = {https://doi.org/10.1186/1750-1172-5-27}
}RIS
TY - JOUR TI - A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis. AU - Schneider H AU - Lingesleben A AU - Vogel HP AU - Garuti R AU - Calandra S PY - 2010 JO - Orphanet journal of rare diseases DO - 10.1186/1750-1172-5-27 UR - https://doi.org/10.1186/1750-1172-5-27 ER -
APA
H, S., A, L., HP, V., R, G., & S, C. (2010). A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.. Orphanet journal of rare diseases. https://doi.org/10.1186/1750-1172-5-27