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Mutations in the holocarboxylase synthetase gene HLCS.
Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y. Suzuki Y, et al. Among authors: matsubara y. Hum Mutat. 2005 Oct;26(4):285-90. doi: 10.1002/humu.20204. Hum Mutat. 2005. PMID: 16134170 Review.
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y. Kure S, et al. Among authors: matsubara y. Hum Mutat. 2006 Apr;27(4):343-52. doi: 10.1002/humu.20293. Hum Mutat. 2006. PMID: 16450403
Competitive allele-specific short oligonucleotide hybridization (CASSOH) with enzyme-linked immunosorbent assay (ELISA) for the detection of pharmacogenetic single nucleotide polymorphisms (SNPs).
Hiratsuka M, Ebisawa A, Sakuyama K, Matsubara Y, Kure S, Soya Y, Konno Y, Sasaki T, Kishiba A, Mizugaki M. Hiratsuka M, et al. Among authors: matsubara y. J Biochem Biophys Methods. 2006 Jun 30;67(2-3):87-94. doi: 10.1016/j.jbbm.2006.01.005. Epub 2006 Feb 17. J Biochem Biophys Methods. 2006. PMID: 16546261
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Kobayashi T, et al. Among authors: matsubara y. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Hum Mutat. 2010. PMID: 20052757
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K. Wataya K, et al. Among authors: matsubara y. Hum Mutat. 1998;11(5):377-86. doi: 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9600456
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
Fujii K, Matsubara Y, Akanuma J, Takahashi K, Kure S, Suzuki Y, Imaizumi M, Iinuma K, Sakatsume O, Rinaldo P, Narisawa K. Fujii K, et al. Among authors: matsubara y. Hum Mutat. 2000;15(2):189-96. doi: 10.1002/(SICI)1098-1004(200002)15:2<189::AID-HUMU8>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10649496
1,014 results