Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions

Higuchi, Takashi ; Kobayashi, Masahisa ; Ogata, Jin ; Kaneshiro, Eiko ; Shimada, Yohta ; Kobayashi, Hiroshi ; Eto, Yoshikatsu ; Maeda, Shiro ; Ohtake, Akira ; Ida, Hiroyuki ; Ohashi, Toya

JIMD Reports, Volume 30, 2016, Vol.30, p.63-72 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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