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Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.
Alsaif, Hessa S; Al-Owain, Mohammad; Barrios-Llerena, Martin E; Gosadi, Ghada; Binamer, Yousef; Devadason, David; Ravenscroft, Jane; Suri, Mohnish; Alkuraya, Fowzan S.
  • Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
  • Barrios-Llerena ME; Proteomics and Mass Spectrometry, Bioscience Core Labs, King Abdullah University of Science and Technology, Thuwal 23955, Saudi Arabia.
  • Gosadi G; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Binamer Y; Department of Dermatology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Devadason D; Department of Paediatric Gastroenterology, Nottingham Children's Hospital, Nottingham University Hospitals, Queen's Medical Centre, Nottingham NG72UH, United Kingdom.
  • Ravenscroft J; Department of Paediatric Dermatology, Nottingham Children's Hospital, Nottingham University Hospitals, Queen's Medical Centre, Nottingham NG72UH, United Kingdom.
  • Suri M; Clinical Genetics Service, Nottingham University Hospitals, City Hospital Campus, Nottingham NG51PB, United Kingdom. Electronic address: mohnish.suri@nuh.nhs.uk.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
Am J Hum Genet ; 105(5): 1016-1022, 2019 11 07.
Article en En | MEDLINE | ID: mdl-31630791
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Subunidades de Proteína / Complejo 1 de Proteína Adaptadora / Subunidades beta de Complejo de Proteína Adaptadora / Enfermedades Genéticas Congénitas / Mutación Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Subunidades de Proteína / Complejo 1 de Proteína Adaptadora / Subunidades beta de Complejo de Proteína Adaptadora / Enfermedades Genéticas Congénitas / Mutación Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article