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In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.
Tajouri, Asma; Kharrat, Maher; Hizem, Syrine; Zaghdoudi, Hajer; M'rad, Ridha; Simic-Schleicher, Gunter; Kaiser, Frank J; Hiort, Olaf; Werner, Ralf.
Afiliação
  • Tajouri A; University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES10 Human Genetics Laboratory, Tunis, Tunisia.
  • Kharrat M; Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Luebeck, Luebeck, Germany.
  • Hizem S; University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES10 Human Genetics Laboratory, Tunis, Tunisia.
  • Zaghdoudi H; University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES10 Human Genetics Laboratory, Tunis, Tunisia.
  • M'rad R; University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES10 Human Genetics Laboratory, Tunis, Tunisia.
  • Simic-Schleicher G; University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES10 Human Genetics Laboratory, Tunis, Tunisia.
  • Kaiser FJ; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
  • Hiort O; Children's Hospital of Bremen-Nord, Bremen, Germany.
  • Werner R; Section for Functional Genetics at the Institute of Human Genetics, University of Luebeck, Luebeck, Germany.
Hum Mutat ; 39(12): 2097-2109, 2018 12.
Article em En | MEDLINE | ID: mdl-30298535
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Drosophila / Proteínas Hedgehog / Disgenesia Gonadal 46 XY / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Tunísia
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Drosophila / Proteínas Hedgehog / Disgenesia Gonadal 46 XY / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Tunísia