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Genetics of eye diseases = an overview /

Kannabiran, Chitra.

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Genetics of eye diseases = an overview /

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Genetics of eye diseases/ by Chitra Kannabiran.
其他題名:	an overview /
作者:	Kannabiran, Chitra.
出版者:	Singapore :Springer Singapore : : 2019.,
面頁冊數:	xi, 172 p. :ill., digital ;24 cm.
Contained By:	Springer eBooks
標題:	Eye - Diseases -
電子資源:	https://doi.org/10.1007/978-981-13-7146-2
ISBN:	9789811371462

Genetics of eye diseases = an overview /
Kannabiran, Chitra.

Genetics of eye diseasesan overview /[electronic resource] :by Chitra Kannabiran. - Singapore :Springer Singapore :2019. - xi, 172 p. :ill., digital ;24 cm.

This 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.

ISBN: 9789811371462

Standard No.: 10.1007/978-981-13-7146-2doiSubjects--Topical Terms:

878095
Eye
--Diseases

LC Class. No.: RE906 / .K35 2019

Dewey Class. No.: 617.7042

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520 $a This 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.
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