Results 171 to 174 of about 5,510 (174)

Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age‐associated limbic tauopathy

Neuropathology and Applied Neurobiology, 2014
Kapás, István, Katkó, Mónika, Harangi, Mariann, Paragh, György, Balogh, István, Kóczi Z, Regelsberger G, Molnár, Mária Judit, Kovacs GG   +8 more
openaire   +2 more sources

Expression of human CYP27A1 in B. megaterium for the efficient hydroxylation of cholesterol, vitamin D3 and 7-dehydrocholesterol

Journal of Biotechnology, 2016
Adrian Gerber, Frank Hannemann, Rita Bernhardt   +2 more
exaly  

Atypical Cerebrotendinous Xanthomatosis with Normal Serum Cholestanol and Novel VUS on the CYP27A1 Gene: A Case Report (P6-5.014)

Neurology
Taylor Peabody, Henry Moore
openaire   +1 more source

Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy

Journal of Maternal-Fetal and Neonatal Medicine
Xiaoming Zeng, Ying Xiong, Mengni Zhou   +2 more
exaly