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000781080 020__ $$a9784431565116$$q(electronic book)
000781080 020__ $$a4431565116$$q(electronic book)
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000781080 08204 $$a617.7/042$$223
000781080 24500 $$aAdvances in vision research.$$nVolume I,$$pGenetic eye research in Asia and the Pacific /$$cGyan Prakash, Takeshi Iwata, editors.
000781080 24630 $$aGenetic eye research in Asia and the Pacific
000781080 264_1 $$aTokyo, Japan :$$bSpringer,$$c2017.
000781080 300__ $$a1 online resource (xv, 523 pages) :$$billustrations.
000781080 336__ $$atext$$btxt$$2rdacontent
000781080 337__ $$acomputer$$bc$$2rdamedia
000781080 338__ $$aonline resource$$bcr$$2rdacarrier
000781080 4901_ $$aEssentials in ophthalmology,$$x1612-3212
000781080 500__ $$aIncludes index.
000781080 5050_ $$aForeword; Preface; Contents; 1: Asian Eye Genetics Consortium (AEGC); 1.1 Introduction; 1.2 The Initial Concept of Asian Eye Genetics Consortium(AEGC); 1.3 The Goals of AEGC; 1.4 AEGC Activities in Asian Countries; 1.5 Growing AEGC Members and Researcher Exchange Programs; 1.6 AEGC Database Construction; 1.7 Summary; 2: Japan Eye Genetics Consortium (JEGC) for Hereditary Retinal Diseases; 2.1 Introduction; 2.2 Short History of the Consortium; 2.3 Disease, Diagnostic, and Disease Leader; 2.4 Structure of Sample and Data Flow of the Consortium; 2.5 Online Patient Registration System
000781080 5058_ $$a2.6 Collected Pedigree by Disease Type2.7 Whole Exome Analysis; 2.8 Result of the Genetic Analysis of the Japanese Population; 2.9 Construction of Patient-Derived iPS Cells and Gene Knock-In Animal Models; 2.10 Development of Genotype-Phenotype Database; 2.11 Discussion and Future Prospects; References; 3: Whole Genome Sequencing in Genetic Eye Diseases; 3.1 Introduction; 3.2 Advantages of Whole Genome Sequencing; 3.3 Procedures of Whole Genome Sequencing; 3.3.1 Mapping and Variant Calling; 3.4 Filtering Strategy; 3.5 Applications of Whole Genome Sequencing in Genetic Eye Diseases
000781080 5058_ $$a3.5.1 Inherited Retinal Dystrophy3.6 Syndromic Eye Diseases and Anophthalmia; 3.7 Age-Related Macular Degeneration; 3.8 Retinoblastoma; 3.9 Limitations and Challenges of WGS; 3.10 Conclusions; References; 4: Targeted Exome Sequencing in Japanese Patients with Retinitis Pigmentosa; 4.1 Introduction; 4.2 Pros and Cons of Targeted Exome Sequencing; 4.3 Laboratory; 4.3.1 Principal of Targeted Exome Sequencing; 4.3.2 Data Analysis; 4.3.3 Example of Practice; 4.3.3.1 Data Acquisition; 4.3.3.2 Data Analysis; 4.4 Epidemiology; 4.5 Compliance with Ethical Requirements; References
000781080 5058_ $$a5: Genetic Epidemiology of Congenital Cataracts and Autosomal Recessive Retinal Degenerations in Pakistan5.1 Pakistani Population Characteristics; 5.2 Collaboration Between the NEI, the CEMB, and AIMC; 5.3 Approaches to Identifying Genes and Loci; 5.3.1 Linkage Analysis; 5.3.2 Homozygosity Mapping; 5.4 Examples of Novel Genes Identified; 5.4.1 Cataract; 5.4.1.1 CRYBB3: Gene and Function; 5.4.1.2 FYCO1: Gene and Function; 5.4.1.3 EPHA2: Gene and Function; 5.4.2 Retinal Dystrophy; 5.4.2.1 ZNF513: Gene and Function; 5.4.2.2 SLC24A1: Gene and Function
000781080 5058_ $$a5.5 Mutation Spectrum of arCC and arRD in Consanguineous Pakistani Families5.5.1 Cataract; 5.5.2 Autosomal Recessive Retinal Dystrophies; 5.6 Discussion; References; 6: Genetics of Cataract in Asia: An Overview of Research in Congenital and Age-Related Cataract with Emphasis on Indian Popula...; 6.1 Introduction; 6.2 Epidemiology and Asian Perspective; 6.3 Etiopathogenesis; 6.4 Clinical Features; 6.5 Genetic Aspects; 6.5.1 Age-Related Cataracts; 6.5.2 Congenital Cataract; 6.6 Molecular Biology; 6.7 Summary; References; 7: Genetic Analysis of Families with Retinal Dystrophies; 7.1 Introduction
000781080 506__ $$aAccess limited to authorized users.
000781080 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed May 3, 2017).
000781080 650_0 $$aEye$$xDiseases$$zAsia$$xGenetic aspects.
000781080 650_0 $$aBlindness$$zAsia$$xGenetic aspects.
000781080 7001_ $$aPrakash, Gyan,$$eeditor.
000781080 7001_ $$aIwata, Takeshi,$$eeditor.
000781080 77608 $$iPrint version:$$z4431565094$$z9784431565093$$w(OCoLC)962896631
000781080 830_0 $$aEssentials in ophthalmology.
000781080 852__ $$bebk
000781080 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-4-431-56511-6$$zOnline Access$$91397441.1
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