Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.-论文-万方医学网

作者： Maha,Mameesh ^[1] ; Anuradha,Ganesh ^[1] ; Beena,Harikrishna ^[1] ; Sana,Al Zuhaibi ^[1] ; Patrick,Scott ^[2] ; Sami,Al Kalbani ^[2] ; Khalid,Al Thihli ^[2]

作者单位： a Department of Ophthalmology , Sultan Qaboos University Hospital , Muscat , Oman. ^[1] b Department of Genetics , Sultan Qaboos University Hospital , Muscat , Oman. ^[2]

主题词青少年(Adolescent);反向转运物(Antiporters);染色体, 人, 11对(Chromosomes, Human, Pair 11);近亲(Consanguinity);视网膜电描记术(Electroretinography);眼疾病(Eye Diseases);女(雌)性(Female);基因, 隐性(Genes, Recessive);糖原贮积病Ⅰ型(Glycogen Storage Disease Type I);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);小眼(Microphthalmos);单糖转运蛋白质类(Monosaccharide Transport Proteins);突变(Mutation);视盘小疣(Optic Disk Drusen);系谱(Pedigree);表型(Phenotype);色素性视网膜炎(Retinitis Pigmentosa);视网膜劈裂症(Retinoschisis);同胞(Siblings);视敏度(Visual Acuity)

DOI 10.1080/13816810.2017.1323340

PMID 28511025

发布时间 2018-03-16

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Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Ophthalmic genetics

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Ophthalmic genetics

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Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Ophthalmic genetics

相似文献

Ophthalmic genetics

相关期刊

检索历史清除