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ID number:363213
 
Evaluation:
Published: 17.12.2005.
Language: English
Level: Secondary school
Literature: n/a
References: Not used
Extract

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging (von Kobe, et al., 2003). It is named after the German physician Carl W. Otto Werner (1879-1936), who first described the syndrome as part of his doctoral thesis in 1904. WS is caused by mutations in the RecQ family of helicase which are encoded by chromosome 8p by the WRN gene (Moser, et al., 1999). The mutations truncate the WRN protein with a loss of up to 1256 amino acids. In other words, WS is caused by a helicase defect, and as a result, DNA replication is impaired. …

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