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Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP 27A1 gene
Author(s) -
Jiao H.,
Olin M.,
Hansson M.,
Eggertsen G.,
Eriksson M.,
Angelin B.,
Björkhem I.
Publication year - 2018
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/joim.12709
Subject(s) - cerebrotendinous xanthomatosis , cyp27a1 , cholestanol , compound heterozygosity , chenodeoxycholic acid , medicine , penetrance , sanger sequencing , ataxia , genetics , mutation , endocrinology , gene , bile acid , biology , sterol , cholesterol , psychiatry , phenotype