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9 results for author:"Isshiki G." in Literature citations

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The HLA-DOB gene displays limited polymorphism with only one amino acid substitution.

Naruse T.K., Kawata H., Inoko H., Isshiki G., Yamano K., Hino M., Tatsumi N.

Tissue Antigens 59:512-519(2002) · UniProtKB (1)

Molecular characterization of galactokinase deficiency in Japanese patients.

Asada M., Okano Y., Imamura T., Suyama I., Hase Y., Isshiki G.

J. Hum. Genet. 44:377-382(1999) · UniProtKB (1)

Limited polymorphism in the HLA-DOA gene.

Naruse T.K., Kawata H., Anzai T., Takashige N., Kagiya M., Nose Y., Nabeya N., Isshiki G., Tatsumi N., Inoko H.

Tissue Antigens 53:359-365(1999) · UniProtKB (1)

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

Fujimaru M., Tanaka A., Choeh K., Wakamatsu N., Sakuraba H., Isshiki G.

Hum. Genet. 103:462-469(1998) · UniProtKB (1)

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

Kure S., Suzuki Y., Matsubara Y., Sakamoto O., Shintaku H., Isshiki G., Hoshida C., Izumi I., Sakura N., Narisawa K.

Biochem. Biophys. Res. Commun. 248:426-431(1998) · UniProtKB (1)

HLA-DRB4 genotyping by PCR-RFLP: diversity in the associations between HLA-DRB4 and DRB1 alleles.

Naruse T.K., Ando R., Nose Y., Kagiya M., Ando H., Kawata H., Nabeya N., Isshiki G., Inoko H.

Tissue Antigens 49:152-159(1997) · UniProtKB (3)

Molecular genetics of Tay-Sachs disease in Japan.

Tanaka A., Sakazaki H., Murakami H., Isshiki G., Suzuki K.

J. Inherit. Metab. Dis. 17:593-600(1994) · UniProtKB (1)

Molecular characterization of galactosemia (type 1) mutations in Japanese.

Ashino J., Okano Y., Suyama I., Yamazaki T., Yoshino M., Furuyama J., Lin H.-C., Reichardt J.K.V., Isshiki G.

Hum. Mutat. 6:36-43(1995) · UniProtKB (1)

Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.

Tomatsu S., Fukuda S., Sukegawa K., Ikedo Y., Yamada S., Yamada Y., Sasaki T., Okamoto H., Kuwahara T., Yamaguchi S. et al.

Am. J. Hum. Genet. 48:89-96(1991) · UniProtKB (1)

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