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Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.
Graul-Neumann, Luitgard M; Mensah, Martin A; Klopocki, Eva; Uebe, Steffen; Ekici, Arif B; Thiel, Christian T; Reis, André; Zweier, Christiane.
Afiliação
  • Graul-Neumann LM; Ambulantes Gesundheitszentrum Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany. Electronic address: luitgard.graul-neumann@charite.de.
  • Mensah MA; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt Universität zu Berlin, Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany.
  • Klopocki E; Institut für Humangenetik, Biozentrum, Universität Würzburg, Würzburg, Germany.
  • Uebe S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Ekici AB; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Thiel CT; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Eur J Med Genet ; 61(7): 363-368, 2018 Jul.
Article em En | MEDLINE | ID: mdl-29407414
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article