The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified
โฆ LIBER โฆ
Distribution of haplotypes derived from three common variants of theNR4A2 gene in Japanese patients with schizophrenia
โ Scribed by Iwayama-Shigeno, Yoshimi ;Yamada, Kazuo ;Toyota, Tomoko ;Shimizu, Hiromitsu ;Hattori, Eiji ;Yoshitsugu, Kiyoshi ;Fujisawa, Tetsuya ;Yoshida, Yukako ;Kobayashi, Toshio ;Toru, Michio ;Kurumaji, Akeo ;Detera-Wadleigh, Sevilla ;Yoshikawa, Takeo
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 62 KB
- Volume
- 118B
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Oculocerebrorenal syndrome of Lowe: Thre
โ
Kawano, Tomoyasu; Indo, Yasuhiro; Nakazato, Hitoshi; Shimadzu, Mitsunobu; Matsud
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 62 KB
๐ 1 views
Clinical, pathological, and genetic feat
โ
Hisaomi Kawai; Masashi Akaike; Makoto Kunishige; Toshio Inui; Katsuhito Adachi;
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 469 KB
๐ 1 views
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ยฑ 3.1 years (mean ยฑ SD), and loss of ambulance occurred at 38.5 ยฑ 2.1 years. Muscle atrophy was predominant in