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The Year in Human and Medical Genetics

New Trends in Mendelian Genetics, Volume 1214

Livre broché | Anglais | Annals of the New York Academy of Science | n° 70
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Description

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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Editeur:

Contenu

Nombre de pages :
220
Langue:
Anglais
Collection :
Tome:
n° 70

Caractéristiques

EAN:
9781573317894
Date de parution :
25-01-11
Format:
Livre broché
Format numérique:
Trade paperback (VS)
Dimensions :
175 mm x 249 mm
Poids :
476 g

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