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Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.

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Title: Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
Authors: Tawfik CA; Department of Ophthalmology, Ain Shams University, 38 Abbasseya, Nour Mosque, El-Mohamady, Al Waili, Cairo, 11566, Egypt. Caroline_Tawfik@med.asu.edu.eg., Elbagoury NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt., Khater NI; Department of Ophthalmology, Cairo University, Giza, Egypt.; Al Mouneer Diabetic Eye Center, Dokki, Giza, Egypt., Essawi ML; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
Source: BMC ophthalmology [BMC Ophthalmol] 2022 May 12; Vol. 22 (1), pp. 217. Date of Electronic Publication: 2022 May 12.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Tawfik+CA%22">Tawfik CA</searchLink>; Department of Ophthalmology, Ain Shams University, 38 Abbasseya, Nour Mosque, El-Mohamady, Al Waili, Cairo, 11566, Egypt. Caroline_Tawfik@med.asu.edu.eg.<br /><searchLink fieldCode="AU" term="%22Elbagoury+NM%22">Elbagoury NM</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Khater+NI%22">Khater NI</searchLink>; Department of Ophthalmology, Cairo University, Giza, Egypt.; Al Mouneer Diabetic Eye Center, Dokki, Giza, Egypt.<br /><searchLink fieldCode="AU" term="%22Essawi+ML%22">Essawi ML</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
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  Data: <searchLink fieldCode="JN" term="%22100967802%22">BMC ophthalmology</searchLink> [BMC Ophthalmol] 2022 May 12; Vol. 22 (1), pp. 217. <i>Date of Electronic Publication: </i>2022 May 12.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967802 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2415 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712415%22">14712415 </searchLink><i>NLM ISO Abbreviation: </i>BMC Ophthalmol <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12886-022-02444-5
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              Text: 2022 May 12
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