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The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.

Neurology - 29 Jan 2008

Szlago M, Gallus G N, Schenone A, Patiño M E, Sfaelo Z, Rufa A, Da Pozzo P, Cardaioli E, Dotti M T, Federico A

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PMID: 18227423
DOI: 10.1212/01.wnl.0000280460.28039.3d

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The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.PMID 18227423Read ↗

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Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.Semantic proximity Read ↗

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.Semantic proximity Read ↗

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.Semantic proximity Read ↗

Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.Semantic proximity Read ↗

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