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Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa

✍ Scribed by Mutsuko Hayakawa; Keiko Fujiki; Atsushi Kanai; Miyo Matsumura; Yoshihito Honda; Hiroshi Sakaue; Makoto Tamai; Takehiko Sakuma; Takashi Tokoro; Tomotsugu Yura; Nobue Kubota; Shinichiro Kawano; Mizuo Matsui; Mitsuko Yuzawa; Yoshihisa Oguchi; Kiyoshi Akeo; Emiko Adachi; Tsuyoshi Kimura; Yozo Miyake; Masayuki Horiguchi; Kenji Wakabayashi; Nobuto Ishizaka; Kan Koizumi; Masanobu Uyama; Nobuko Tagami; Tatsuro Ishibashi; Takakazu Honda; Takashi Nakagawa; Muneyasu Takeda; Kanji Choshi; Michio Watanabe; Osamu Tamura; Naomi Shimowake; Hisayuki Ueno; Kazuyuki Yoshida; Yasushi Isashiki; Norio Ohba

Book ID
114044642
Publisher
Springer
Year
1997
Tongue
English
Weight
580 KB
Volume
41
Category
Article
ISSN
0021-5155

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Clinical and genetic heterogeneity in re
Clinical and genetic heterogeneity in retinitis pigmentosa
✍ Josseline Kaplan; Dominique Bonneau; Jean FrΓ©zal; Arnold Munnich; Jean-Louis Duf πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 733 KB

The clinical course of defective vision and blindness has been investigated in relation to different modes of genetic transmission in a large series of 93 families with retinitis pigmentosa (RP). For autosomal dominant RP, two clinical subtypes could be distinguished according to the delay in macula