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000890309 0247_ $$a10.1007/978-981-13-7146-2$$2doi
000890309 0247_ $$a10.1007/978-981-13-7
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000890309 08204 $$a617.7/042$$223
000890309 1001_ $$aKannabiran, Chitra,$$eauthor.
000890309 24510 $$aGenetics of eye diseases :$$ban overview /$$cChitra Kannabiran.
000890309 264_1 $$aSingapore :$$bSpringer,$$c2019.
000890309 300__ $$a1 online resource (xi, 172 pages) :$$billustrations
000890309 336__ $$atext$$btxt$$2rdacontent
000890309 337__ $$acomputer$$bc$$2rdamedia
000890309 338__ $$aonline resource$$bcr$$2rdacarrier
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000890309 5050_ $$aIntro; Preface; Introduction and Scope of the Book; Contents; 1: Genetics in Corneal Diseases; 1.1 Corneal Dystrophies; 1.1.1 Introduction and Classification; 1.1.2 Epithelial and Subepithelial Corneal Dystrophies; 1.1.2.1 Meesmann Corneal Dystrophy (MECD); Manifestations and Clinical Features; Genetics; 1.1.2.2 Gelatinous Drop-Like Corneal Dystrophy (GDLD; MIM #204870 [Also Known as Subepithelial Amyloidosis, Primary Familial Amyloidosis]); Manifestations and Clinical Features; Genetics; 1.1.2.3 Lisch Epithelial Corneal Dystrophy (MIM 300778); Genetics; 1.1.3 Corneal Stromal Dystrophies
000890309 5058_ $$a1.1.3.1 Macular Corneal Dystrophy (MCD, MCDC1 [OMIM 217800])Genetics; 1.1.3.2 Fleck Dystrophy (Central Cloudy Dystrophy of Francois; Francois-Neetens Fleck Corneal Dystrophy; CFD, MIM 121850); Manifestations; Genetics; 1.1.4 Corneal Dystrophies Associated with Mutations in the Transforming Growth Factor Beta-Induced (TGFBI) Gene; 1.1.4.1 Transforming Growth Factor-Induced (TGFBI) Gene; 1.1.4.2 Granular Corneal Dystrophy Type III (Reis-Bücklers Dystrophy; Cornea Dystrophy of Bowman Layer Type I (CDB1; CDRB); Geographic Corneal Dystrophy; OMIM 608470)
000890309 5058_ $$aManifestations and Clinical FeaturesGenetics; 1.1.4.3 Thiel-Behnke Corneal Dystrophy [(CDTB, CDB2); Curly Fiber Dystrophy; MIM 602082]; Genetics; 1.1.4.4 Granular Corneal Dystrophies Types I and II (MIM # 121900; 607541); Manifestations and Clinical Features; Genetics; 1.1.4.5 Lattice Corneal Dystrophy (LCD); 1.1.5 Corneal Endothelial Dystrophies; 1.1.5.1 Congenital Hereditary Endothelial Dystrophy (CHED); Genetics; 1.1.5.2 Posterior Polymorphous Corneal Dystrophy (PPCD); Genetics of PPCD; 1.1.5.3 Fuchs Endothelial Corneal Dystrophy (FECD); Genetics of FECD; Early-Onset FECD
000890309 5058_ $$aLate-Onset FECD1.1.5.4 Genetics of Corneal Endothelial Dystrophies in Indian Patients; 1.2 Keratoconus; 1.2.1 Mapped Loci for Keratoconus; 1.2.2 Genes Associated with Keratoconus; References; 2: Genetics in Cataracts; 2.1 Congenital Cataracts; 2.1.1 Genetics of Congenital Cataract; 2.1.2 Mutations in Alpha-Crystallins; 2.1.2.1 Alpha A-Crystallin (CRYAA); 2.1.3 Mutations in Beta-Crystallins; 2.1.3.1 Acidic Beta-Crystallins; BetaA3/A1-Crystallin; Beta A2 and Beta A4-Crystallins; 2.1.3.2 Basic Beta-Crystallins; Crystallin Beta B1; Crystallin Beta B2
000890309 5058_ $$aAnimal Models of Cataract from Mutant Beta B2-Crystallin2.1.4 Mutations in Gamma-Crystallins; 2.1.4.1 Mutations in CRYGC; 2.1.4.2 Mutations in CRYGD; 2.1.4.3 Mutations in CRYGS; 2.1.5 Mutations in Genes Encoding Lens Membrane Proteins and Gap Junctions; 2.1.5.1 Connexin Genes; Mutations in GJA8/Connexin 50 in Indian Families; Autosomal Dominant Cataracts; Autosomal Recessive Cataracts; Mutations in GJA3 in Indian Families; 2.1.5.2 Lens Intrinsic Membrane Protein 2 (LIM2, MP19, MP20); LIM2 Mutations in Cataracts; 2.1.6 Mutations in Genes Encoding Transcription Factors; 2.1.6.1 MAF
000890309 506__ $$aAccess limited to authorized users.
000890309 520__ $$aThis book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with different genetic etiologies. The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level. Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.
000890309 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed May 10, 2019).
000890309 650_0 $$aEye$$xDiseases$$xGenetic aspects.
000890309 77608 $$iPrint version: $$z9789811371455
000890309 852__ $$bebk
000890309 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-981-13-7146-2$$zOnline Access$$91397441.1
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