title: Exome sequencing identifiedRPS15Aas a novel causative gene for Diamond-Blackfan anemia.
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
authors.forename: Fumika
authors.initials: F
authors.lastname: Ikeda
authors.affiliation: Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan.|Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Yoshida
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Toki
authors.affiliation: Frontier Science Research Center, University of Miyazaki, Japan.
authors.forename: Tamayo
authors.initials: T
authors.lastname: Uechi
authors.affiliation: Frontier Science Research Center, University of Miyazaki, Japan.
authors.forename: Shiori
authors.initials: S
authors.lastname: Ishida
authors.affiliation: Frontier Science Research Center, University of Miyazaki, Japan.
authors.forename: Yukari
authors.initials: Y
authors.lastname: Nakajima
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors.forename: Yoji
authors.initials: Y
authors.lastname: Sasahara
authors.affiliation: Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan.|Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Okuno
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
authors.forename: Rika
authors.initials: R
authors.lastname: Kanezaki
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
authors.forename: Kiminori
authors.initials: K
authors.lastname: Terui
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Kamio
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
authors.forename: Akie
authors.initials: A
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Fujita
authors.affiliation: Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan.|Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Japan.
authors.forename: Aiko
authors.initials: A
authors.lastname: Sato-Otsubo
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Shiraishi
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Tanaka
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Chiba
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Muramatsu
authors.affiliation: Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Fukuoka, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Kanno
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: Shouichi
authors.initials: S
authors.lastname: Ohga
authors.affiliation: Department of Pediatrics, Omori Hospital, Toho University, Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ohara
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.affiliation: Frontier Science Research Center, University of Miyazaki, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Kenmochi
authors.affiliation: Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.|Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Miyano
authors.affiliation: Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan sogawa-tky@umin.ac.jp eturou@hirosaki-u.ac.jp.|Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Japan.
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan sogawa-tky@umin.ac.jp eturou@hirosaki-u.ac.jp.
authors.forename: Etsuro
authors.initials: E
authors.lastname: Ito
mesh_terms: D000328:Adult; D017398:Alternative Splicing; D029503:Anemia, Diamond-Blackfan / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000818:Animals; D064113:CRISPR-Cas Systems; D049109:Cell Proliferation; D002675:Child, Preschool; D004625:Embryo, Nonmammalian; D059472:Exome; D005091:Exons; D005260:Female; D000072669:Gene Editing; D015870:Gene Expression; D057895:Haploinsufficiency; D006801:Humans; D007223:Infant; D020014:K562 Cells; D010375:Pedigree; D017354:Point Mutation; D012337:RNA, Ribosomal, 18S / Q000235:genetics* / Q000378:metabolism; D012269:Ribosomal Proteins / Q000172:deficiency / Q000235:genetics*; D035781:Siblings; D000073359:Exome Sequencing; D015027:Zebrafish
chemical_list: D012337:RNA, Ribosomal, 18S; C000627949:RPS15A protein, human; D012269:Ribosomal Proteins