Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.

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作者： Collette K,Hand ^[1] ; Mairide,McGuire ^[2] ; Nollaig A,Parfrey ^[1] ; Conor C,Murphy ^[2]

作者单位： a Department of Pathology , University College Cork , Cork , Ireland. ^[1] b Department of Ophthalmology , Royal Victoria Eye and Ear Hospital , Dublin , Ireland. ^[2] c Department of Ophthalmology , Royal College of Surgeons in Ireland , Dublin , Ireland. ^[3]

关键词 Congenital hereditary endothelial dystrophy Fuchs endothelial dystrophy Harboyan syndrome SLC4A11 gene corneal dystrophy and perceptive deafness

主题词青少年(Adolescent);成年人(Adult);阴离子转运蛋白质类(Anion Transport Proteins);反向转运物(Antiporters);近亲(Consanguinity);角膜营养不良, 遗传性(Corneal Dystrophies, Hereditary);DNA突变分析(DNA Mutational Analysis);外显子(Exons);女(雌)性(Female);纯合子(Homozygote);人类(Humans);内含子(Introns);爱尔兰(Ireland);男(雄)性(Male);中年人(Middle Aged);突变, 误义(Mutation, Missense);系谱(Pedigree);青年人(Young Adult)

DOI 10.3109/13816810.2016.1151901

PMID 27057589

发布时间 2018-01-26

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Ophthalmic genetics

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Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.

Ophthalmic genetics

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Ophthalmic genetics

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Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.

Ophthalmic genetics

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Ophthalmic genetics

相关期刊

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