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658 Identification of a novel mutation in wilson disease patients from upper-austria: A genetic and clinical study

โœ Scribed by H. Hofer; C. Willheim-Polli; E. Hackl; P. Knoflach; C. Gabriel; P. Ferenci

Book ID
117374934
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
130 KB
Volume
44
Category
Article
ISSN
0168-8278

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Identification of three novel mutations
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
โœ Eun Kyung Kim; Ook Joon Yoo; Kyu Young Song; Han Wook Yoo; Sang Yong Choi; Sung ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 168 KB ๐Ÿ‘ 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