Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27 hydroxylase gene (CYP27). Clinically, a multitude of neurological, skeletal, and vascular manifestations are usually present. Premature atherosclerosis has been reported in CTX a...

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Detaylı Bibliyografya
Asıl Yazarlar: Leitersdorf, E., Safadi, R., Meiner, V., Reshef, A., Björkhem, I., Friedlander, Y., Morkos, S., Berginer, V. M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1994
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918342/
https://ncbi.nlm.nih.gov/pubmed/7977352
Etiketler: Etiketle
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