R352Q mutation of the DHCR7 gene is common among Japanese Smith–Lemli–Opitz syndrome patients
Year: 2005
Type: article
Source: Journal of Human Genetics
Authors: Yoshiyuki Matsumoto, Ken-ichi Morishima, Akira Honda, Shoji Watabe, Misa Yamamoto, Masayuki Hara, Masaki Hasui, Chikako Saito, Toshimitsu Takayanagi, Tsutomu Yamanaka, Nakamichi Saito, Hideaki Kudo, Nobuhiko Okamoto, Masato Tsukahara, Shinya Matsuura
Institutions: Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima University, University of Tsukuba, Yamaguchi University, Tokyo Medical and Dental University, National Hospital Organization Hokuriku Hospital, National Hospital Organization Saga National Hospital, Okazaki Womens Junior College, Shin Koga Hospital, Osaka Women's and Children's Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2053089596