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STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
Turkgenc, Burcu; Sanlidag, Burcin; Eker, Amber; Giray, Asli; Kutuk, Ozgur; Yakicier, Cengiz; Tolun, Aslihan; Temel, Sehime G.
Afiliação
  • Turkgenc B; Acibadem Diagnostic Center, Istanbul, Turkey.
  • Sanlidag B; Department of Pediatric Neurology, Near East University Faculty of Medicine, Nicosia, Cyprus.
  • Eker A; Department of Neurology, Near East University Faculty of Medicine, Nicosia, Cyprus.
  • Giray A; Faculty of Engineering, Department of Genetics and Bioengineering, Alaaddin Keykubat University, Antalya, Turkey.
  • Kutuk O; Department of Medical Genetics, Adana Dr. Turgut Noyan Medical and Research Center, Baskent University School of Medicine, Adana, Turkey.
  • Yakicier C; Department of Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey.
  • Tolun A; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Temel SG; Department of Medical Genetics, Uludag University, Bursa, Turkey.
Hum Mutat ; 39(10): 1344-1348, 2018 10.
Article em En | MEDLINE | ID: mdl-30058754
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Poli A / Variação Genética / Poliadenilação / Ubiquitina-Proteína Ligases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Poli A / Variação Genética / Poliadenilação / Ubiquitina-Proteína Ligases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article