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A rare metabolic disease: cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2. The patient was diagnosed with epilepsy in our clinic for seven years and was diagnosed with cerebrotendinous xanthomatosis with a weakn...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Van Yuzuncu Yil University, School of Medicine
2019-04-01
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| Col·lecció: | Van Tip Dergisi |
| Matèries: | |
| Accés en línia: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-18863 |
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