The first reported case of Menkes disease caused by an Alu insertion mutation

Gu, YanHong ; Kodama, Hiroko ; Watanabe, Shigero ; Kikuchi, Nobuyuki ; Ishitsuka, Ineo ; Ozawa, Hiroshi ; Fujisawa, Chie ; Shiga, Katsuaki

Brain & development (Tokyo. 1979), 2007-03, Vol.29 (2), p.105-108 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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