Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

Fabre, Alexandre; Badens, Catherine

Fabre, Alexandre; Badens, Catherine.

Afiliação

Fabre A; Service de pédiatrie Multidisciplinaire, Hôpital des Enfants de la Timone, APHM, Marseille, France; ; UMR_S 910, Aix-Marseille Université, Marseille, France;
Badens C; UMR_S 910, Aix-Marseille Université, Marseille, France; ; Service de Génétique Moléculaire, Hôpital des Enfants de la Timone, APHM, Marseille, France.

Intractable Rare Dis Res ; 3(1): 8-11, 2014 Feb.

Article em En | MEDLINE | ID: mdl-25343120

Palavras-chave

EXOSC3; Ponto-cerebellar hypoplasia type 1; RNA exosome; SKIV2L; Syndromic diarrhea; TTC37; tricho-hepato-enteric syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Intractable Rare Dis Res Ano de publicação: 2014 Tipo de documento: Article