The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

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作者： Hiromi Koso,Nishimoto ^[1] ; Kyungsoo,Ha ; Julie R,Jones ; Alka,Dwivedi ; Hyun-Min,Cho ; Lawrence C,Layman ; Hyung-Goo,Kim

作者单位： Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Georgia Regents University, Augusta, Georgia. ^[1]

关键词 Coffin-Lowry syndrome DGDP Kinase Domain RPS6KA3 RSK2 deletion drop episode intellectual disability

主题词氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);细胞系(Cell Line);儿童(Child);儿童, 学龄前(Child, Preschool);Coffin-Lowry综合征(Coffin-Lowry Syndrome);家庭(Family);人类(Humans);婴儿(Infant);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变(Mutation);核糖体蛋白质S6激酶类, 90-kDa(Ribosomal Protein S6 Kinases, 90-kDa)

DOI 10.1002/ajmg.a.36488

PMID 25044551

发布时间 2020-09-30

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American journal of medical genetics. Part A

2014年164A卷9期

2172-9页

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The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

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