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Au-delà du gène by Asadi, Shahin

Au-delà du gène

by Shahin Asadi
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Book cover type: Paperback
  • ISBN13: 9786200846587
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Editions Notre Savoir
  • Publisher Imprint: Editions Notre Savoir
  • Publication Date:
  • Pages: 276
  • Original Price: GBP 60.81
  • Language: French
  • Edition: N/A
  • Item Weight: 372 grams
  • BISAC Subject(s): Life Sciences / Genetics & Genomics

Aujourd'hui, les troubles neurologiques et neuromusculaires jouent un r�le tr�s important dans le d�veloppement de nombreuses maladies. Parmi ces troubles neurologiques, on trouve le syndrome de Lesch-Nyhan (LNS). Le syndrome de Lesch-Nyhan (LNS) est un trouble neuromusculaire qui provoque g�n�ralement une maladie neurod�g�n�rative progressive li�e au chromosome X. Il appara�t � l'�ge adulte et se caract�rise par trois mouvements anormaux, des troubles cognitifs et des troubles psychologiques. Le syndrome de Lesch-Nyhan (LNS) est caus� par des mutations g�n�tiques, mais des facteurs �pig�n�tiques jouent �galement un r�le essentiel dans l'apparition de la maladie. Dans cette �tude, nous avons analys� 40 personnes, dont 20 atteintes du syndrome de Lesch-Nyhan (SLN) et 20 personnes du groupe t�moin. Le g�ne HPRT1 a �t� analys� en termes de mutation g�n�tique. Cette �tude a cibl� les personnes pr�sentant une mutation g�n�tique et des troubles nerveux, le syndrome de Lesch-Nyhan (LNS). En fait, parmi toutes les personnes atteintes du syndrome de Lesch-Nyhan (LNS), 20 pr�sentaient une mutation g�n�tique dans le g�ne HPRT1. Aucune mutation g�n�tique n'a �t� observ�e dans les g�nes cibles du groupe t�moin.

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