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Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
Sasai, Hideo; Aoyama, Yuka; Otsuka, Hiroki; Abdelkreem, Elsayed; Nakama, Mina; Hori, Tomohiro; Ohnishi, Hidenori; Turner, Lesley; Fukao, Toshiyuki.
Afiliação
  • Sasai H; Department of Pediatrics Graduate School of Medicine Gifu University Gifu Japan.
  • Aoyama Y; Department of PediatricsGraduate School of MedicineGifu UniversityGifuJapan; Department of Biomedical SciencesCollege of Life and Health SciencesChubu UniversityKasugaiJapan.
  • Otsuka H; Department of Pediatrics Graduate School of Medicine Gifu University Gifu Japan.
  • Abdelkreem E; Department of PediatricsGraduate School of MedicineGifu UniversityGifuJapan; Department of PediatricsFaculty of MedicineSohag UniversitySohagEgypt.
  • Nakama M; Division of Clinical Genetics Gifu University Hospital Gifu Japan.
  • Hori T; Department of Pediatrics Graduate School of Medicine Gifu University Gifu Japan.
  • Ohnishi H; Department of Pediatrics Graduate School of Medicine Gifu University Gifu Japan.
  • Turner L; Discipline of Genetics Memorial University of Newfoundland St John's NF Canada.
  • Fukao T; Department of PediatricsGraduate School of MedicineGifu UniversityGifuJapan; Division of Clinical GeneticsGifu University HospitalGifuJapan.
Mol Genet Genomic Med ; 5(2): 177-184, 2017 Mar.
Article em En | MEDLINE | ID: mdl-28361105
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2017 Tipo de documento: Article