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Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Al-Zayed, Zayed; Al-Rijjal, Roua A; Al-Ghofaili, Lamya; BinEssa, Huda A; Pant, Rajeev; Alrabiah, Anwar; Al-Hussainan, Thamer; Zou, Minjing; Meyer, Brian F; Shi, Yufei.
  • Al-Zayed Z; Department of Orthopedics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Rijjal RA; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Al-Ghofaili L; Department of Genetics, MBC 3, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • BinEssa HA; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Pant R; Department of Genetics, MBC 3, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Alrabiah A; Department of Orthopedics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Hussainan T; Department of Orthopedics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Zou M; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Meyer BF; Department of Orthopedics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Shi Y; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Orphanet J Rare Dis ; 16(1): 100, 2021 02 25.
Article en En | MEDLINE | ID: mdl-33632255
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Exostosis Múltiple Hereditaria / N-Acetilglucosaminiltransferasas Límite: Humans País como asunto: Asia Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Exostosis Múltiple Hereditaria / N-Acetilglucosaminiltransferasas Límite: Humans País como asunto: Asia Idioma: En Año: 2021 Tipo del documento: Article