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Glycogen storage disease type Ia : Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cellsAKANUMA, J; NISHIGAKI, T; OGAWA, E et al.American journal of medical genetics. 2000, Vol 91, Num 2, pp 107-112, issn 0148-7299Article

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type IaTAKAHASHI, K; AKANUMA, J; OHURA, T et al.American journal of medical genetics. 2000, Vol 92, Num 2, pp 90-94, issn 0148-7299Article

Dysferlin mutations in Japanese miyoshi myopathy: Relationship to phenotypeTAKAHASHI, T; AOKI, M; SHIZUKA-IKEDA, M et al.Neurology. 2003, Vol 60, Num 11, pp 1799-1804, issn 0028-3878, 6 p.Article

Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transferNAGASAKI, Y; MATSUBARA, Y; SAITO, I et al.Pediatric research. 1999, Vol 45, Num 4, pp 465-473, issn 0031-3998, 1Article

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