✦ LIBER ✦

Identification of three novel mutations in theMNKgene in three unrelated Japanese patients with classical Menkes disease

✍ Scribed by A. Ogawa; Shigenori Yamamoto; Masaki Takayanagi; Toshiaki Kogo; Masaki Kanazawa; Yoichi Kohno

Publisher: Nature Publishing Group
Year: 1999
Tongue: English
Weight: 84 KB
Volume: 44
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380050144

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Early copper therapy in classic Menkes d

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

✍ Dr Stephen G. Kaler; Neil R. M. Buist; Courtney S. Holmes; David S. Goldstein; R 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 911 KB

## Abstract To correlate genotype with response to early copper histidine therapy in Menkes disease, an X‐linked disorder of copper transport, we performed mutational analysis in 2 related males who began treatment at the age of 10 days and prenatally at 32 weeks' gestation, respectively. A G to T

Three novel mutations of thePAX6gene in

Three novel mutations of thePAX6gene in Japanese aniridia patients

✍ Toshio Kawano; Chunxia Wang; Yoshihiro Hotta; Miho Sato; Emi Iwata-Amano; Akiko 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 206 KB

Novel mutation of L718X in theATP7Agene

Novel mutation of L718X in theATP7Agene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population

✍ A. Ogawa; S. Yamamoto; M. Kanazawa; E. Ogawa; M. Takayanagi; S. Hasegawa; Y. Koh 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 77 KB

Identification of three novel mutations

Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B

✍ Hiroyuki Ida; Owen M. Rennert; Kihei Maekawa; Yoshikatsu Eto 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB 👁 2 views

Novel mutations of theATP7Bgene in Japan

Novel mutations of theATP7Bgene in Japanese patients with Wilson disease

✍ Yoichiro Kusuda; Kazuyuki Hamaguchi; Tetsu Mori; Rie Shin; Masataka Seike; Toshi 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 98 KB

Mutation analysis in patients with Wilso

Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations

✍ Regina Haas; Bertha Gutierrez-Rivero; Judith Knoche; Klaus Böker; Michael P. Man 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2