R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Matsumoto Y, Morishima KI, Honda A, Watabe S, Yamamoto M, Hara M, Hasui M, Saito C, Takayanagi T, Yamanaka T, Saito N, Kudo H, Okamoto N, Tsukahara M, Matsuura S.
Matsumoto Y, et al. Among authors: watabe s.
J Hum Genet. 2005;50(7):353-356. doi: 10.1007/s10038-005-0267-3. Epub 2005 Jul 26.
J Hum Genet. 2005.
PMID: 16044199