2024-03-28T17:48:03Z
https://nagoya.repo.nii.ac.jp/oai
oai:nagoya.repo.nii.ac.jp:00022226
2023-01-16T04:11:05Z
499:960:1165
Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall
ABCA12遺伝子の点変異と重複するエクソン欠損変異の複合ヘテロ接合体におけるapparent homozygosity
Shibata, Akitaka
柴田, 章貴
metadata only access
2016-03-25
eng
doctoral thesis
http://hdl.handle.net/2237/24366
https://nagoya.repo.nii.ac.jp/records/22226
甲第11259号
博士(医学)
2016-03-25
13901
名古屋大学
Nagoya University
https://nagoya.repo.nii.ac.jp/record/22226/files/k11259_review.pdf
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907.4 kB
2018-02-21
https://nagoya.repo.nii.ac.jp/record/22226/files/k11259_publication_list.pdf
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34.9 kB
2018-02-21
https://nagoya.repo.nii.ac.jp/record/22226/files/k11259_abstract.pdf
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707.6 kB
2018-02-21
https://nagoya.repo.nii.ac.jp/record/22226/files/k11259_summary.pdf
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743.6 kB
2018-02-21