✦ LIBER ✦

Four Japanese male patients with juvenile retinoschisis: Only three have mutations in the RS1 gene

✍ Scribed by Takaaki Hayashi; Satoshi Omoto; Tomokazu Takeuchi; Kenichi Kozaki; Yasuo Ueoka; Kenji Kitahara

Book ID: 116199843
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 582 KB
Volume: 138
Category: Article
ISSN: 0002-9394
DOI: 10.1016/j.ajo.2004.06.031

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of four novel mutations o

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis

✍ Yukihiko Mashima; Kei Shinoda; Susumu Ishida; Yoko Ozawa; Jun Kudoh; Takeshi Iwa 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina. Recent mutation analysis of this gene revealed 82 different mutations in 214 patients with RS. We have now identified 1

Two novel point mutations of the XLRS1 g

Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis

✍ Yumiko Inoue; Shuji Yamamoto; Tomoyuki Inoue; Takashi Fujikado; Shunji Kusaka; N 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 209 KB

A novel mutation K167X of the XLRS1 gene

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis

✍ Fuu-Jen Tsai; Chi-fan Yang; Jer-Yuarn Wu; Hui-Ju Lin; Cheng-Chun Lee; Chang-Hai 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Electroretinographic Findings in Three F

Electroretinographic Findings in Three Family Members with X-linked Juvenile Retinoschisis Associated with a Novel Pro192Thr Mutation of the XLRS1 Gene

✍ Naoyuki Tanimoto; Tomoaki Usui; Mineo Takagi; Shigeru Hasegawa; Haruki Abe; Keig 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 364 KB

Three novel mutations in the interleukin

Three novel mutations in the interleukin-2 receptor γ chain gene in four Japanese patients with X-linked severe combined immunodeficiency

✍ Yoshiyuki Minegishi; Naoto Ishii; Hirotoshi Maeda; Shuji Takagi; Masahiro Tsuchi 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 653 KB

Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.

Identification of a novel mutation in th

Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis

✍ Ai Hattori; Naohisa Tomosugi; Yasuaki Tatsumi; Ayami Suzuki; Kazuhiko Hayashi; Y 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 525 KB