Authors:
Okubo, M
Horinishi, A
Takeuchi, M
Suzuki, Y
Sakura, N
Hasegawa, Y
Igarashi, T
Goto, K
Tahara, H
Uchimoto, S
Omichi, K
Kanno, H
Hayasaka, K
Murase, T
Citation: M. Okubo et al., Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan, HUM GENET, 106(1), 2000, pp. 108-115
Authors:
Okubo, M
Horinishi, A
Suzuki, Y
Murase, T
Hayasaka, K
Citation: M. Okubo et al., Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin, AM J MED G, 93(3), 2000, pp. 211-214
Authors:
Okubo, M
Inoue, S
Horinishi, A
Ogihara, T
Kaneko, K
Gotoda, T
Yamada, N
Murase, T
Citation: M. Okubo et al., Detection of a new compound heterozygote (del G(916)/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients, ATHEROSCLER, 144(2), 1999, pp. 443-447