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Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.
Al Mutairi, Fuad; Alkhalaf, Randa; Alkhorayyef, Abdullah; Alroqi, Fayhan; Yusra, Alyafee; Umair, Muhammad; Nouf, Fetaini; Khan, Amjad; Meshael, Alharbi; Hamad, Aleidi; Monira, Alaujan; Asiri, Abdulaziz; Alhamoudi, Kheloud M; Alfadhel, Majid.
Afiliação
  • Al Mutairi F; Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children's Hospital, King Abdulaziz Medical City, P. O Box 22490, Riyadh, 11426, Saudi Arabia. almutairifu@ngha.med.sa.
  • Alkhalaf R; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia. almutairifu@ngha.med.sa.
  • Alkhorayyef A; Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children's Hospital, King Abdulaziz Medical City, P. O Box 22490, Riyadh, 11426, Saudi Arabia.
  • Alroqi F; Pulmonary Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Yusra A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
  • Umair M; Immunology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Nouf F; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
  • Khan A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
  • Meshael A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
  • Hamad A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
  • Monira A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
  • Asiri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
  • Alhamoudi KM; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
  • Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
BMC Pulm Med ; 20(1): 141, 2020 May 15.
Article em En | MEDLINE | ID: mdl-32414360
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Motilidade Ciliar / Quinases Relacionadas a NIMA Limite: Child, preschool / Female / Humans Idioma: En Revista: BMC Pulm Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Motilidade Ciliar / Quinases Relacionadas a NIMA Limite: Child, preschool / Female / Humans Idioma: En Revista: BMC Pulm Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Arábia Saudita