Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.

Bis, Dana M; Schüle, Rebecca; Reichbauer, Jennifer; Synofzik, Matthis; Rattay, Tim W; Soehn, Anne; de Jonghe, Peter; Schöls, Ludger; Züchner, Stephan

Bis, Dana M; Schüle, Rebecca; Reichbauer, Jennifer; Synofzik, Matthis; Rattay, Tim W; Soehn, Anne; de Jonghe, Peter; Schöls, Ludger; Züchner, Stephan.

Afiliação

Bis DM; John P. Hussman Institute for Human GenomicsUniversity of MiamiMiamiFlorida.
Schüle R; Dr. John T. Macdonald Foundation Department of Human GeneticsUniversity of MiamiMiamiFlorida.
Reichbauer J; John P. Hussman Institute for Human GenomicsUniversity of MiamiMiamiFlorida.
Synofzik M; Center for Neurology and Hertie Institute for Clinical Brain ResearchEberhard-Karls-UniversityTübingenGermany.
Rattay TW; German Center of Neurodegenerative Diseases (DZNE)TübingenGermany.
Soehn A; Center for Neurology and Hertie Institute for Clinical Brain ResearchEberhard-Karls-UniversityTübingenGermany.
de Jonghe P; Center for Neurology and Hertie Institute for Clinical Brain ResearchEberhard-Karls-UniversityTübingenGermany.
Schöls L; German Center of Neurodegenerative Diseases (DZNE)TübingenGermany.
Züchner S; Center for Neurology and Hertie Institute for Clinical Brain ResearchEberhard-Karls-UniversityTübingenGermany.

Mol Genet Genomic Med ; 5(3): 280-286, 2017 May.

Article em En | MEDLINE | ID: mdl-28546998

Palavras-chave

Ataxia; motoneuron disease; uniparental disomy; whole exome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2017 Tipo de documento: Article

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