Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a japanese patient with ataxia-stelangiectasia

Toshiyuki Fukao; Hideaki Tashita; Takahide Teramoto; Ryosuke Inoue; Hideo Kaneko; Kayo Komiyama; Anat Bar-Shira; Shlomit Gilad; Yosef Shiloh; Masaaki Nishimura; Naomi Kondo

doi:10.1002/humu.1380110172

Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a japanese patient with ataxia-stelangiectasia

Toshiyuki Fukao^*, Hideaki Tashita, Takahide Teramoto, Ryosuke Inoue, Hideo Kaneko, Kayo Komiyama, Anat Bar-Shira, Shlomit Gilad, Yosef Shiloh, Masaaki Nishimura, Naomi Kondo

^*Corresponding author for this work

Human Molecular Genetics Biochemistry

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	S223-S225
Journal	Human Mutation
Volume	11
Issue number	SUPPL 1
DOIs	https://doi.org/10.1002/humu.1380110172
State	Published - 1998

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10.1002/humu.1380110172

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Fukao, T., Tashita, H., Teramoto, T., Inoue, R., Kaneko, H., Komiyama, K., Bar-Shira, A., Gilad, S., Shiloh, Y., Nishimura, M., & Kondo, N. (1998). Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a japanese patient with ataxia-stelangiectasia. Human Mutation, 11(SUPPL 1), S223-S225. https://doi.org/10.1002/humu.1380110172

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author = "Toshiyuki Fukao and Hideaki Tashita and Takahide Teramoto and Ryosuke Inoue and Hideo Kaneko and Kayo Komiyama and Anat Bar-Shira and Shlomit Gilad and Yosef Shiloh and Masaaki Nishimura and Naomi Kondo",

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Fukao, T, Tashita, H, Teramoto, T, Inoue, R, Kaneko, H, Komiyama, K, Bar-Shira, A, Gilad, S, Shiloh, Y, Nishimura, M & Kondo, N 1998, 'Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a japanese patient with ataxia-stelangiectasia', Human Mutation, vol. 11, no. SUPPL 1, pp. S223-S225. https://doi.org/10.1002/humu.1380110172

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AU - Fukao, Toshiyuki

AU - Tashita, Hideaki

AU - Teramoto, Takahide

AU - Inoue, Ryosuke

AU - Kaneko, Hideo

AU - Komiyama, Kayo

AU - Bar-Shira, Anat

AU - Gilad, Shlomit

AU - Shiloh, Yosef

AU - Nishimura, Masaaki

AU - Kondo, Naomi

PY - 1998

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SN - 1059-7794

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JO - Human Mutation

JF - Human Mutation

IS - SUPPL 1

ER -

Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a japanese patient with ataxia-stelangiectasia

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