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首页> Eye (London, England)> A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.

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第一作者： S,Rahimi-Aliabadi

第一单位： Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

作者： S,Rahimi-Aliabadi ^[1] ; N,Daftarian ^[2] ; H,Ahmadieh ^[2] ; B,Emamalizadeh ^[1] ; J,Jamshidi ^[3] ; A,Tafakhori ^[4] ; H,Ghaedi ^[1] ; R,Noroozi ^[1] ; S,Taghavi ^[1] ; A,Ahmadifard ^[1] ; E,Alehabib ^[1] ; M,Andarva ^[1] ; P,Shokraeian ^[5] ; M,Atakhorrami ^[1] ; H,Darvish ^[1]

作者单位： Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ^[1] Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ^[2] Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran. ^[3] Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran. ^[4] Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran. ^[5]

主题词成年人(Adult);釉质形成不全(Amelogenesis Imperfecta);阳离子转运蛋白质类(Cation Transport Proteins);近亲(Consanguinity);DNA突变分析(DNA Mutational Analysis);视网膜电描记术(Electroretinography);女(雌)性(Female);人类(Humans);男(雄)性(Male);眼震, 病理性(Nystagmus, Pathologic);系谱(Pedigree);表型(Phenotype);畏光(Photophobia);点突变(Point Mutation);聚合酶链反应(Polymerase Chain Reaction);色素性视网膜炎(Retinitis Pigmentosa);视觉障碍(Vision Disorders)

DOI 10.1038/eye.2016.137

PMID 27419834

发布时间 2018-12-02

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Eye (London, England)

Eye (London, England)

2016年30卷11期

1424-1432页

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