Article
A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 1997
Hotta Y, Fujiki K, Hayakawa M, Kohno N, Kitagawa H, Doi R, Kanai A
Abstract excerpt
BACKGROUND: Although mutations of the CHM gene have been reported in the Caucasian patients with choroideremia, there have been no such reports in non-Caucasian patients. We analyzed the CHM gene in a Japanese patient with choroideremia associated with pinealoma. METHODS: The method for screening was a nonradioisotopic modification of single-strand conformation polymorphism (SSCP) analysis. The PCR products from...
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