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Molecular analysis of insulin receptor gene in Werner's syndrome

✍ Scribed by Shigeo Uotani; Yoshihiko Yamaguchi; Atsushi Yokota; Hironori Yamasaki; Hirofumi Takino; Nobuhiro Chikuba; Yoshiki Goto; Naoki Fujishima; Mayumi Yano; Kazunari Matsumoto; Eiji Kawasaki; Shoichi Akazawa; Shigenobu Nagataki


Book ID
119135503
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
826 KB
Volume
26
Category
Article
ISSN
0168-8227

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Leprechaunism is a rare autosomal recessive disorder characterized by marked intrauterine and postnatal growth retardation, severe insulin resistance, and altered glucose homeostasis. This syndrome is related to mutations in the insulin receptor (IR) gene that impair the transmission of the insulin