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Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease.
Massadeh, Salam; Albeladi, Maha; Albesher, Nour; Alhabshan, Fahad; Kampe, Kapil Dev; Chaikhouni, Farah; Kabbani, Mohamed S; Beetz, Christian; Alaamery, Manal.
Afiliación
  • Massadeh S; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard- Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.
  • Albeladi M; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.
  • Albesher N; Saudi Human Genome Project (SHGP), King Abdulaziz City for Science and Technology (KACST), Satellite Lab at King Abdulaziz Medical City (KAMC), Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.
  • Alhabshan F; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard- Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.
  • Kampe KD; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.
  • Chaikhouni F; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard- Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.
  • Kabbani MS; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.
  • Beetz C; Department of Cardiac Sciences, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh 11481, Saudi Arabia.
  • Alaamery M; Centogene GmbH, 18055 Rostock, Germany.
Genes (Basel) ; 12(5)2021 04 21.
Article en En | MEDLINE | ID: mdl-33919081
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteína Quinasa C / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteína Quinasa C / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita