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Nonsense mutation in exon 2 of the butyrylcholinesterase gene: a case of familial cholinesterasemia

โœ Scribed by Kazuo Hidaka; Iwao Iuchi; Toshiko Yamasaki; Naoki Ueda; Kouichi Hukano

Book ID
117075481
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
545 KB
Volume
261
Category
Article
ISSN
0009-8981

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A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an indep