Truncating mutations in APP cause a distinct neurological phenotype.

Klein, Steven; Goldman, Alexander; Lee, Hane; Ghahremani, Shahnaz; Bhakta, Viraj; Nelson, Stanley F; Martinez-Agosto, Julian A

Klein, Steven; Goldman, Alexander; Lee, Hane; Ghahremani, Shahnaz; Bhakta, Viraj; Nelson, Stanley F; Martinez-Agosto, Julian A.

Afiliação

Klein S; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.
Goldman A; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.
Lee H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.
Ghahremani S; Department of Radiology.
Bhakta V; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.
Nelson SF; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.
Martinez-Agosto JA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.

Ann Neurol ; 80(3): 456-60, 2016 Sep.

Article em En | MEDLINE | ID: mdl-27422356

Assuntos

Precursor de Proteína beta-Amiloide/genética; Corpo Caloso/patologia; Deficiências do Desenvolvimento/genética; Microcefalia/genética; Hipotonia Muscular/genética; Convulsões/genética; Consanguinidade; Humanos; Lactente; Masculino; Mutação; Fenótipo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Deficiências do Desenvolvimento / Precursor de Proteína beta-Amiloide / Corpo Caloso / Microcefalia / Hipotonia Muscular Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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