Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.

JSON

Jiao H, Olin M, Hansson M, Eggertsen G, Eriksson M, Angelin B, Björkhem I

J. Intern. Med. - (-) - [2017-11-02; online 2017-11-02]

NGI Stockholm (Genomics Applications) [Service]

NGI Stockholm (Genomics Production) [Service]

National Genomics Infrastructure [Service]

PubMed 29095540

DOI 10.1111/joim.12709

Crossref 10.1111/joim.12709