Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.-论文-万方医学网

第一作者： Petter,Strømme

第一单位： Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.

作者： Petter,Strømme ^[1] ; Marie E,Mangelsdorf ; Marie A,Shaw ; Karen M,Lower ; Suzanne M E,Lewis ; Helene,Bruyere ; Viggo,Lütcherath ; Agi K,Gedeon ; Robyn H,Wallace ; Ingrid E,Scheffer ; Gillian,Turner ; Michael,Partington ; Suzanna G M,Frints ; Jean-Pierre,Fryns ; Grant R,Sutherland ; John C,Mulley ; Jozef,Gécz

作者单位： Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia. ^[1]

医学主题词氨基酸序列(Amino Acid Sequence);动物(Animals);果蝇蛋白质类(Drosophila Proteins);癫痫(Epilepsy);家庭卫生(Family Health);女(雌)性(Female);单倍型(Haplotypes);人类(Humans);男(雄)性(Male);小鼠(Mice);模型, 遗传学(Models, Genetic);分子序列数据(Molecular Sequence Data);突变(Mutation);突变, 误义(Mutation, Missense);核酸杂交(Nucleic Acid Hybridization);系谱(Pedigree);聚腺苷酸类(Poly A);序列同源性, 氨基酸(Sequence Homology, Amino Acid);组织分布(Tissue Distribution);转录, 遗传(Transcription, Genetic);X染色体(X Chromosome)

DOI 10.1038/ng862

PMID 11889467

发布时间 2019-05-23

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Nature genetics

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Nature genetics

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Nature genetics

相似文献

同项目论文

Nature genetics

相关期刊

检索历史清除