New trends in Mendelian genetics
著者
書誌事項
New trends in Mendelian genetics
（Annals of the New York Academy of Sciences, v. 1214 . The year in human and medical genetics）
Blackwell Pub. on behalf of the New York Academy of Sciences, 2010
- タイトル別名
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The year in human and medical genetics : new trends in Mendelian genetics
大学図書館所蔵 全1件
注記
Includes bibliographical references
supported in part by a grant from the Life Technologies Foundation
内容説明・目次
内容説明
The latest edition of The Year in Human and Medical Genetics is focused on exploring new trends in Mendelian genetics. While Mendelian genetics is often seen as an out-dated discipline of interest to rare patients and few scholars, there have been many ground-breaking discoveries have been made in Mendelian genetics in the last decade. Single-gene defects of known Mendelian phenotypes have been deciphered, and novel diagnostic and therapeutic means have been devised, thanks to these studies. Moreover, novel phenotypes have been explored from a Mendelian angle, including common phenotypes. This volume captures the most important topics in Mendelian genetics through thought-provoking reviews that highlight the importance of classical Mendelian phenotypes and, when applicable, that challenge the "rare disease-rare variant/common disease-common variant" theme so common today.
Featured topics include: deafness, infectious diseases, kidney diseases, CNS development, autoimmunity, population genetics and Mendelian traits, heart disorders, and obesity.
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