Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

The sterol 27-hydroxylase (EC 1.14.13.15) catalyzes steps in the oxidation of sterol intermediates that form bile acids. Mutations in this gene give rise to the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). CTX is characterized by tendon xanthomas, cataracts, a multitude of neuro...

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Autors principals: Leitersdorf, E, Reshef, A, Meiner, V, Levitzki, R, Schwartz, S P, Dann, E J, Berkman, N, Cali, J J, Klapholz, L, Berginer, V M
Format: Artigo
Idioma:Inglês
Publicat: 1993
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC443309/
https://ncbi.nlm.nih.gov/pubmed/8514861
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