Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.

Rhein, Cosima; Mühle, Christiane; Kornhuber, Johannes; Reichel, Martin

Rhein, Cosima; Mühle, Christiane; Kornhuber, Johannes; Reichel, Martin.

Afiliação

Rhein C; Department of Psychiatry and Psychotherapy, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany. cosima.rhein@uk-erlangen.de.
Mühle C; Department of Psychiatry and Psychotherapy, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany. christiane.muehle@uk-erlangen.de.
Kornhuber J; Department of Psychiatry and Psychotherapy, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany. johannes.kornhuber@uk-erlangen.de.
Reichel M; Department of Psychiatry and Psychotherapy, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany. martin.reichel@uk-erlangen.de.

Int J Mol Sci ; 16(6): 13649-52, 2015 Jun 15.

Article em En | MEDLINE | ID: mdl-26084044

Assuntos

Mutação; Doença de Niemann-Pick Tipo A/genética; Doença de Niemann-Pick Tipo B/genética; Esfingomielina Fosfodiesterase/genética; Humanos

Palavras-chave

Niemann-Pick disease; gene variant; missense mutation; polymorphism; sphingomyelin phosphodiesterase

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esfingomielina Fosfodiesterase / Doença de Niemann-Pick Tipo A / Doença de Niemann-Pick Tipo B / Mutação Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha

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