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A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion

✍ Scribed by M. Vázquez-Acevedo; M.E. Vázquez-Memije; O.M. Mutchinick; J.J. Morales; G. García-Ramos; D. González-Halphen


Publisher
Springer Milan
Year
2002
Tongue
English
Weight
73 KB
Volume
23
Category
Article
ISSN
1590-1874

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Communicated by David W. Yandell Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive disorder in which a deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) leads to progressive blindness. Previously, we and others have reported a number of missense mut