Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.-论文-万方医学网

作者： Shery,Thomas ^[1] ; Mervyn G,Thomas ^[2] ; Caroline,Andrews ^[3] ; Wai-Man,Chan ^[3] ; Frank A,Proudlock ^[2] ; Rebecca J,McLean ^[2] ; Archana,Pradeep ^[2] ; Elizabeth C,Engle ^[3] ; Irene,Gottlob ^[2]

作者单位： 1] Ophthalmology Group, School of Medicine, University of Leicester, Leicester, UK [2] Department of Ophthalmology, Nottingham University Hospital NHS Trust, Nottingham, UK. ^[1] Ophthalmology Group, School of Medicine, University of Leicester, Leicester, UK. ^[2] 1] Department of Neurology, Ophthalmology, Medicine (Genetics), FM Kirby Neurobiology Center, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA [2] Department of Neurology, Harvard Medical School, Boston, MA, USA [3] Howard Hughes Medical Institute, Chevy Chase, MD, USA. ^[3]

主题词青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);老年人(Aged);白内障(Cataract);儿童(Child);染色体, 人, 11对(Chromosomes, Human, Pair 11);眼疾病, 遗传性(Eye Diseases, Hereditary);眼蛋白质类(Eye Proteins);女(雌)性(Female);中央凹(Fovea Centralis);基因, 显性(Genes, Dominant);同源盒结构域蛋白质类(Homeodomain Proteins);人类(Humans);优势对数记分法(Lod Score);男(雄)性(Male);中年人(Middle Aged);突变, 误义(Mutation, Missense);眼震, 先天性(Nystagmus, Congenital);成对盒转录因子类(Paired Box Transcription Factors);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide);阻遏蛋白质类(Repressor Proteins)

DOI 10.1038/ejhg.2013.162

PMID 23942204

发布时间 2022-03-31

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Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

European journal of human genetics

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European journal of human genetics

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Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

European journal of human genetics

相似文献

European journal of human genetics

相关期刊

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