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J-GLOBAL ID：200902214808862338   Reference number：05A0822128

R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients

DHCR7遺伝子のR352Q突然変異は日本人Smith-Lemli-Opitz症候群患者間で共通である

Author (15)： MATSUMOTO Yoshiyuki (Hiroshima Univ., Hiroshima, JPN) ,  MORISHIMA Ken-ichi (Hiroshima Univ., Hiroshima, JPN) ,  HONDA Akira (Univ. Tsukuba, Tsukuba, JPN) ,  WATABE Shoji (Yamaguchi Univ. School of Medicine, Ube, JPN) ,  YAMAMOTO Misa (Yamaguchi Univ. School of Medicine, Ube, JPN) ,  HARA Masayuki (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  HASUI Masaki (Hasui Pediatric Clinic, Kanazawa, JPN) ,  SAITO Chikako (National Sanatorium Hokuriku Hospital, Joe-hana, JPN) ,  TAKAYANAGI Toshimitsu (National Saga Hospital, Saga, JPN) ,  YAMANAKA Tsutomu (Okazaki Women’s Junior Coll., Okazaki, JPN) ,  SAITO Nakamichi (Shin-Koga Hospital, Kurume, JPN) ,  KUDO Hideaki (Asahigawasou Ryoiku Center Ryoikuen, Okayama, JPN) ,  OKAMOTO Nobuhiko (Osaka Medical Center and Res. Inst. for Maternal and Child Health, Osaka, JPN) ,  TSUKAHARA Masato (Yamaguchi Univ. School of Medicine, Ube, JPN) ,  MATSUURA Shinya (Hiroshima Univ., Hiroshima, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 50  Issue： 7  Page： 353-356  Publication year： 2005 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： Smith-Lemli-Opitz症候群 ,...

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JST classification (1)： Genetic variation  (EC01030Y)

Reference (18)：

• BAE, SH. Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein. J Biol Chem. 1999, 274, 14624-14631
• CUNNIFF, C. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet. 1997, 68, 263-269
• FITZKY, BU. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA. 1998, 95, 8181-8186
• KELLEY, RI. A new face for an old syndrome. Am J Med Genet. 1997, 68, 251-256
• KRAKOWIAK, PA. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients : polymerase chain reaction-based assays to simplify genotyping. Am J Med Genet. 2000, 94, 214-227

Terms in the title (5)： 遺伝子 ,  突然変異 ,  日本人 ,  Smith-Lemli-Opitz症候群 ,  患者