✦ LIBER ✦

Case of a Japanese patient with X-linked ocular albinism associated with theGPR143gene mutation

✍ Scribed by Masafumi Ohtsubo; Miho Sato; Akiko Hikoya; Katsuhiro Hosono; Shinsei Minoshima; Yoshihiro Hotta

Publisher: Springer
Year: 2010
Tongue: English
Weight: 400 KB
Volume: 54
Category: Article
ISSN: 0021-5155
DOI: 10.1007/s10384-010-0872-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in LICAM gene in a Japa

A novel mutation in LICAM gene in a Japanese patient with x-linked hydrocephalus

✍ Nobuhiko Okamoto; Yoshinao Wada; Hidehiko Kawabata; Satoshi Ishikiriyama; Satoru 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 614 KB

A novel mutation of the doublecortin gen

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia

✍ M. Kato; Toshiyuki Kimura; Changqing Lin; Aiko Ito; Soichi Kodama; Tateki Morika 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 59 KB

Mutations of the CD40 ligand gene in 13

Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome

✍ Shigeaki Nonoyama; Mitsunobu Shimadzu; Hano Toru; Kuniaki Seyama; Hiroyuki Nunoi 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 65 KB

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

A japanese patient with X-linked α-thala

A japanese patient with X-linked α-thalassemia/mental retardation syndrome: An additional case report

✍ Kenji Kurosawa; Masako Asoh; Akira Akatsuka; Tomoko Matsuo; Yukikatsu Ochiai; Ki 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 302 KB

Novel mutation of theDAX1 gene in a pati

Novel mutation of theDAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

✍ Hamaguchi, Kazuyuki; Arikawa, Masaya; Yasunaga, Seikoh; Kakuma, Tetsuya; Fukagaw 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc