✦ LIBER ✦

A novelPAX6gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia

✍ Scribed by S. Sonoda; Yasushi Isashiki; Yoshiaki Tabata; Katsuaki Kimura; Tomoko Kakiuchi; Norio Ohba

Publisher: Springer-Verlag
Year: 2000
Tongue: English
Weight: 194 KB
Volume: 238
Category: Article
ISSN: 0065-6100
DOI: 10.1007/s004170000124

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in a family with non-er

A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria

✍ Sui Yu; Victor Poulos; Peter Stewart 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 336 KB

A novel mutation of keratin 9 gene (R162

A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma

✍ Atsushi Kon; Kae Itagaki; Kozo Yoneda; Keiichi Takagaki 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 259 KB

Congenital dyserythropoietic anemia in a

Congenital dyserythropoietic anemia in a Chinese family with a mutation of theCDAN1-gene

✍ Yong Xi Ru; Xiao-fan Zhu; Wen-wei Yan; Jing-tao Gao; Klaus Schwarz; Hermann Heim 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 189 KB

A novel missense mutation of theEDAgene

A novel missense mutation of theEDAgene in a Mongolian family with congenital hypodontia

✍ Ran Tao; Buhe Jin; Shen Zheng Guo; Wei Qing; Guo Yin Feng; David G. Brooks; Liju 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 358 KB

A novel GJA3 mutation associated with co

A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a chinese family

✍ Ke Yao; Wei Wang; Yanan Zhu; Chongfei Jin; Xingchao Shentu; Jin Jiang; Yidong Zh 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 295 KB

Congenital cataract (CC) is the leading cause of visual disability in children. To date, mutations in many genes have been linked to CC. In a four-generation Chinese family with congenital nuclear pulverulent and posterior polar cataracts, we detected a heterozygous c.5G>A transition in the second e

Novel SPG6 mutation p.A100T in a Japanes

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

✍ Satoshi Kaneko; Toshitaka Kawarai; Edwin Yip; Shabnam Salehi-Rad; Christine Sato 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB

## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.