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020 _a9789811371462
024 7 _a10.1007/978-981-13-7146-2
_2doi
040 _bspa
_cES-MaUEC
_dES-MaUEC
050 4 _aRE906
_b.K36 2019 EB
100 1 _aKannabiran, Chitra
_9670363
245 1 0 _aGenetics of Eye Diseases :
_bAn Overview
_cby Chitra Kannabiran
264 1 _aSingapore
_bSpringer Singapore :
_bImprint: Springer
_c2019
300 _a1 recurso en línea (XI, 172 páginas)
_b3 ilustraciones a color
336 _2rdacontent
_aTexto (visual)
_btxt
337 _2rdamedia
_aelectrónico
_bc
338 _2rdacarrier
_arecurso electrónico
_bcr
347 _atext file
_bPDF
_2rda
490 0 _aMedicine (Springer-11650)
520 3 _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.
988 _aPrimersemestre_2019_Medicine
650 7 _aOjos
_9168866
_xEnfermedades
710 2 _aSpringerLink (Online service)
_9106937
776 0 8 _iPrinted edition:
_z9789811371455
776 0 8 _iPrinted edition:
_z9789811371479
776 0 8 _iPrinted edition:
_z9789811371486
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-981-13-7146-2
_zAcceso a este recurso digital (usuarios Universidad Europea de Valencia)
942 _2lcc
_cLE
998 _db
_feng
_ggw
_h0
_zSI