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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.

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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients / 日本人ファンコニ貧血患者117人の原因遺伝子解析

Mori, Minako 23 July 2019 (has links)
京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第22002号 / 医博第4516号 / 新制||医||1038(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 滝田 順子, 教授 松田 文彦, 教授 山田 亮 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM
Fanconi anemia
bone marrow failure
next generation sequencing
VACTERL-H
ALDH2 genotype
490

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