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Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y. Yang X, et al. Among authors: kudoh j. Hum Genet. 2001 Nov;109(5):526-34. doi: 10.1007/s004390100603. Epub 2001 Oct 5. Hum Genet. 2001. PMID: 11735028
Positional cloning of the APECED gene.
Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N. Nagamine K, et al. Among authors: kudoh j. Nat Genet. 1997 Dec;17(4):393-8. doi: 10.1038/ng1297-393. Nat Genet. 1997. PMID: 9398839
Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence.
Guipponi M, Scott HS, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Chen H, Lalioti MD, Rossier C, Minoshima S, Shimizu N, Antonarakis SE. Guipponi M, et al. Among authors: kudoh j. Hum Genet. 1998 Oct;103(4):386-92. doi: 10.1007/s004390050838. Hum Genet. 1998. PMID: 9856478
185 results