The Year in Human and Medical Genetics

New Trends in Mendelian Genetics, Volume 1214

Jean-Laurent Casanova, Laurent Abel, Stanislas Lyonnet (Herausgeber)

Buch | Softcover

220 Seiten

2011
Wiley-Blackwell (Verlag)
978-1-57331-789-4 (ISBN)

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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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Jean-Laurent Casanova is the editor of The Year in Human and Medical Genetics: New Trends in Mendelian Genetics, Volume 1214, published by Wiley. Laurent Abel is the editor of The Year in Human and Medical Genetics: New Trends in Mendelian Genetics, Volume 1214, published by Wiley.

Erscheint lt. Verlag	4.3.2011
Reihe/Serie	Annals of the New York Academy of Sciences
Verlagsort	Hoboken
Sprache	englisch
Maße	178 x 257 mm
Gewicht	472 g
Themenwelt	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Themenwelt	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
ISBN-10	1-57331-789-6 / 1573317896
ISBN-13	978-1-57331-789-4 / 9781573317894
Zustand	Neuware