✦ LIBER ✦

Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease

✍ Scribed by Rajinder Kaul; Guang P. Gao; Kimberlee Michals; Donald T. Whelan; Simon Levin; Reuben Matalon

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 587 KB
Volume: 5
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380050313

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel missense mutation (Y231C) in a Tur

Novel missense mutation (Y231C) in a Turkish patient with Canavan disease

✍ Rady, Peter L.; Vargas, Trini; Tyring, Stephen K.; Matalon, Reuben; Langenbeck, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i

Missense mutation (I143T) in a Japanese

Missense mutation (I143T) in a Japanese patient with Canavan disease

✍ Keiko Kobayashi; Seiichi Tsujino; Takanori Ezoe; Hiroshi Hamaguchi; Kenji Nihei; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB

Novel missense mutation (Leu466Arg) of t

Novel missense mutation (Leu466Arg) of theDAX1 gene in a patient with X-linked congenital adrenal hypoplasia

✍ Abe, Shuji; Nakae, Jun; Yasoshima, Kouichi; Tajima, Toshihiro; Shinohara, Nozomi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv

A novel missense mutation of theSMPD1gen

A novel missense mutation of theSMPD1gene in a Taiwanese patient with type B Niemann–Pick disease

✍ Min-Yu Lan; Shyh-Jer Lin; Ying-Fa Chen; Cheng-Huei Peng; Yu-Fan Liu 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 144 KB

Identification a novel missense mutation

Identification a novel missense mutation p.R761L in Chinese patients with Darier’s disease

✍ Jun Song; Ming Li; Li-Jia Yang; Guo-Long Zhang 📂 Article 📅 2010 🏛 Springer-Verlag 🌐 English ⚖ 318 KB

Identification of three novel mutations

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

✍ Eun Kyung Kim; Ook Joon Yoo; Kyu Young Song; Han Wook Yoo; Sang Yong Choi; Sung 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 2 views

Four mutations-R778L, A874V, L1083F, and 2304delC-in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease. Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequen