Your browser doesn't support javascript.
loading
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
Afzal, Muhammad; Zaman, Qamar; Kornak, Uwe; Mundlos, Stefan; Malik, Sajid; Flöttmann, Ricarda.
Afiliação
  • Afzal M; Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Zaman Q; Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Kornak U; Institut Fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max-Planck-Institut Fuer Molekulare Genetik, FG Development & Disease, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Ge
  • Mundlos S; Institut Fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max-Planck-Institut Fuer Molekulare Genetik, FG Development & Disease, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Ge
  • Malik S; Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. Electronic address: malik@qau.edu.pk.
  • Flöttmann R; Institut Fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany. Electronic address: ricarda.floettmann@charite.de.
Eur J Med Genet ; 60(8): 421-425, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28559208
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA / Sindactilia / Proteínas Relacionadas a Receptor de LDL / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA / Sindactilia / Proteínas Relacionadas a Receptor de LDL / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article