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A Point Mutation in a Cadherin Gene, Cdh23, Causes Deafness in a Novel Mutant, Waltzer Mouse Niigata

✍ Scribed by T. Wada; Y. Wakabayashi; S. Takahashi; T. Ushiki; Y. Kikkawa; H. Yonekawa; R. Kominami


Book ID
115587799
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
252 KB
Volume
283
Category
Article
ISSN
0006-291X

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The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gu Β¨nther's disease. The patient was h