Article
A novel mutation in a patient with Werner's syndrome.
Gerontology - 1 Jan 2000
Nakayama Tomohiro, Ochiai Toyoko, Takahashi Yoshiko, Ohkubo Kimie, Hironaga Takashi, Kokubun Shinichiro
Abstract excerpt
BACKGROUND: Werner's syndrome, a rare autosomal recessive disorder, is characterized by features of premature aging. Seventy-five percent of the alleles of Japanese patients with Werner's syndrome have one of three major mutations. OBJECTIVE: To determine the genotype of a patient with Werner's syndrome. METHODS: We diagnosed Werner's syndrome in a 47-year-old Japanese man who had juvenile cataracts, skin...
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