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010   $a981-13-7146-6
024 7 $a10.1007/978-981-13-7146-2
035   $a(CKB)4100000008525911
035   $a(DE-He213)978-981-13-7146-2
035   $a(MiAaPQ)EBC5776171
035   $a(PPN)236520814
035   $a(EXLCZ)994100000008525911
100   $a20190502d2019      u|         0
101 0 $aeng
135   $aurnn|008mamaa
181   $ctxt$2rdacontent
182   $cc$2rdamedia
183   $acr$2rdacarrier
200 10$aGenetics of Eye Diseases $eAn Overview /$fby Chitra Kannabiran
205   $a1st ed. 2019.
210  1$aSingapore :$cSpringer Singapore :$cImprint: Springer,$d2019.
215   $a1 online resource (XI, 172 p. 3 illus. in color.) 
311   $a981-13-7145-8 
330   $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.
606   $aOphthalmology
606   $aHuman genetics
606   $aOphthalmology$3https://scigraph.springernature.com/ontologies/product-market-codes/H44004
606   $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008
615  0$aOphthalmology.
615  0$aHuman genetics.
615 14$aOphthalmology.
615 24$aHuman Genetics.
676   $a617.7
700   $aKannabiran$b Chitra$4aut$4http://id.loc.gov/vocabulary/relators/aut$0782230
906   $aBOOK
912   $a9910350229503321
996   $aGenetics of Eye Diseases$91734965
997   $aUNINA