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

Yazar: Higuchi, Takashi, Kobayashi, Masahisa, Ogata, Jin, Kaneshiro, Eiko, Shimada, Yohta, Kobayashi, Hiroshi, Eto, Yoshikatsu, Maeda, Shiro, Ohtake, Akira, Ida, Hiroyuki, Ohashi, Toya
Yayımlandı JIMD Rep (2016)