✦ LIBER ✦

Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association

✍ Scribed by C.-C. Lee; J.-Y. Wu; F.-J. Tsai; H. Kodama; T. Abe; C.-F. Yang; C.-H. Tsai

Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 94 KB
Volume: 45
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380070015

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Mutation analysis of Wilson disease in T

Mutation analysis of Wilson disease in Taiwan and description of six new mutations

✍ Chang-Hai Tsai; Fuu-Jen Tsai; Jer-Yuarn Wu; Jang-Gowth Chang; Cheng-Chun Lee; Sh 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 271 KB 👁 2 views

## Kan Wilson disease is an autosomal recessive disorder of copper metabolism. Mutation screening in Wilson disease has led to the detection of at least 89 disease-specific mutations. Some mutations appear to be population specific, while others are common to many populations. In this study, 38 Tai

Mutational analysis of 65 Wilson disease

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

✍ Chloe Miu Mak; Ching-Wan Lam; Sidney Tam; Ching-Lung Lai; Lik-Yuen Chan; Sheung- 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 301 KB

Mutational analysis of 65 Wilson disease

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

✍ Chloe Miu Mak; Ching-Wan Lam; Sidney Tam; Ching-Lung Lai; Lik-Yuen Chan; Sheung- 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 85 KB

Molecular pathogenesis of Wilson disease

Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients

✍ A. Gupta; D. Aikath; R. Neogi; S. Datta; K. Basu; B. Maity; R. Trivedi; J. Ray; 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 428 KB

Arylsulfatase A pseudodeficiency-associa

Arylsulfatase A pseudodeficiency-associated mutations: Population studies and identification of a novel haplotype

✍ Ricketts, Michael H.; Goldman, David; Long, Jeffrey C.; Manowitz, Paul 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 689 KB

Pseudodeficiency of arylsulfatase A is characterized by reduction of arylsulfatase A activity without neurodegeneration, making it an important complication when diagnosing metachromatic leukodystrophy. Two DNA substitutions are associated with arylsulfatase A pseudodeficiency. One, 1788A+G, results