New trends in Mendelian genetics

Author(s)

    • Casanova, Jean-Laurent
    • Abel, Laurent
    • Lyonnet, Stanislas

Bibliographic Information

New trends in Mendelian genetics

issue editors, Jean-Laurent Casanova, Laurent Abel, and Stanislas Lyonnet

(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

Other Title

The year in human and medical genetics : new trends in Mendelian genetics

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Note

Includes bibliographical references

supported in part by a grant from the Life Technologies Foundation

Description and Table of Contents

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. NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit: http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.1111/(ISSN)1749-6632. ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member.

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    Available at 16 libraries

Details

  • NCID
    BB04607123
  • ISBN
    • 9781573317894
  • Country Code
    us
  • Title Language Code
    eng
  • Text Language Code
    eng
  • Place of Publication
    Boston, Mass.
  • Pages/Volumes
    213 p.
  • Size
    26 cm
  • Parent Bibliography ID
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