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Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect.
Al-Alawi, Badriya; Harikrishna, Beena; Al-Thihli, Khalid; Al Zuhabi, Sana; Ganesh, Anuradha; Al Hashami, Zainab; Al Dhamhmani, Zeyana; Zadjali, Razan; Al Riyami, Nafila B; Zadjali, Fahad.
Afiliação
  • Al-Alawi B; Clinical Biochemistry Program, Oman Medical Specialty Board, Muscat 123, Oman.
  • Harikrishna B; Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Al-Thihli K; Department of Genetics, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Al Zuhabi S; Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Ganesh A; Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Al Hashami Z; Department of Clinical Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman.
  • Al Dhamhmani Z; Department of Clinical Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman.
  • Zadjali R; Department of Clinical Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman.
  • Al Riyami NB; Department of Clinical Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman.
  • Zadjali F; Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat 123, Oman.
Genes (Basel) ; 13(2)2022 01 28.
Article em En | MEDLINE | ID: mdl-35205297
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paralisia Cerebral / Canais de Potencial de Receptor Transitório / Mucolipidoses Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Omã País de publicação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paralisia Cerebral / Canais de Potencial de Receptor Transitório / Mucolipidoses Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Omã País de publicação: Suíça