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Updated: May 3, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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Una carga poligénica de mutaciones disruptivas raras en la esquizofrenia

Shaun M Purcell1, Jennifer L Moran2, Menachem Fromer3

  • 11] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [2] Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA [3] Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA [4] Analytic and Translational Genetics Unit, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA [5] Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

Nature
|January 28, 2014
PubMed
Resumen

La genética de la esquizofrenia es compleja, ya que implica muchas mutaciones raras en numerosos genes. La secuenciación del exoma revela una carga poligénica, destacando los canales de calcio regulados por voltaje y los complejos de señalización ARC como áreas clave.

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