| 000 | 06008cam a2200457Ii 4500 | ||
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| 988 | _aSpringer_Medicine_2017 | ||
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| 001 | 95881 | ||
| 003 | ES-MaUEC | ||
| 005 | 20230102112726.0 | ||
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| 008 | 170426s2017 ja a o 001 0 eng d | ||
| 020 |
_a4431565116 _q(electronic bk.) |
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_a9784431565116 _q(electronic bk.) |
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| 020 | _z4431565094 | ||
| 020 |
_z9784431565093 _q(print) |
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| 043 | _aa------ | ||
| 050 | 4 |
_aRE906 _b2017 EB |
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| 245 | 0 | 0 |
_aAdvances in vision research. _nVolume I, _pGenetic eye research in Asia and the Pacific _cGyan Prakash, Takeshi Iwata, editors. |
| 246 | 3 | 0 | _aGenetic eye research in Asia and the Pacific |
| 264 | 1 |
_aTokyo, Japan _bSpringer International Publishing _c2017 |
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| 300 |
_a1 recurso en línea (xv, 523 páginas) _bilustraciones (algunas a color) |
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| 336 |
_aTexto _btxt _2rdacontent |
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| 337 |
_aelectrónico _bc _2rdamedia |
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| 338 |
_arecurso electrónico _bcr _2rdacarrier |
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| 347 |
_atext file _bPDF _2rda |
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| 490 | 0 |
_aEssentials in ophthalmology _x1612-3212 |
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| 505 | 0 | _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. | |
| 505 | 8 | _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. | |
| 505 | 8 | _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. | |
| 505 | 8 | _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. | |
| 505 | 8 | _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. | |
| 520 | 3 | _aThis book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book's editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population. | |
| 651 | 7 |
_aAsia _0comprobar BNE19912644556 _2embne _9554884 |
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| 700 | 1 |
_aIwata, Takeshi, _eeditor literario |
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| 700 | 1 |
_aPrakash, Gyan, _eeditor literario |
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| 856 | 4 | 0 |
_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-4-431-56511-6 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid) |
| 942 |
_2lcc _cLE |
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| 998 |
_b02/2018 _dz _e- _zSI |
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