A novel frameshift mutation in the sterol 27-hydroxylase...

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract

Abdel-Hamid, Mohamed S., Issa, Mahmoud Y., Otaify, Ghada A., Zaki, Maha S.
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Volume:
32
Language:
english
Journal:
Metabolic Brain Disease
DOI:
10.1007/s11011-017-9971-x
Date:
April, 2017
File:
PDF, 2.44 MB
english, 2017
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