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Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois, Patrice; Esteve, Clothilde; Chaix, Charlène; Béroud, Christophe; Lévy, Nicolas; Fabre, Alexandre; Badens, Catherine.
Afiliação
  • Bourgeois P; Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.
  • Esteve C; GMGF, Aix Marseille Univ, Marseille, France.
  • Chaix C; GMGF, Aix Marseille Univ, Marseille, France.
  • Béroud C; Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.
  • Lévy N; Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.
  • Fabre A; Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.
  • Badens C; GMGF, Aix Marseille Univ, Marseille, France.
Hum Mutat ; 39(6): 774-789, 2018 06.
Article em En | MEDLINE | ID: mdl-29527791
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / DNA Helicases / Diarreia Infantil / Retardo do Crescimento Fetal / Doenças do Cabelo Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / DNA Helicases / Diarreia Infantil / Retardo do Crescimento Fetal / Doenças do Cabelo Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article