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Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia
Hiroaki Ono, Nobuo Sakura, Katsuko Yamashita, Isao Yuasa, Kousaku OhnoVolume:
25
Année:
2003
Langue:
english
Pages:
4
DOI:
10.1016/s0387-7604(03)00063-9
Fichier:
PDF, 123 KB
english, 2003