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Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.
Hiraide, Takuya; Nakashima, Mitsuko; Ikeda, Takahiro; Tanaka, Daisuke; Osaka, Hitoshi; Saitsu, Hirotomo.
Affiliation
  • Hiraide T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Ikeda T; Department of Pediatrics, Jichi Medical School, Shimotsuke, Japan.
  • Tanaka D; Department of Pediatrics, Jichi Medical School, Shimotsuke, Japan.
  • Osaka H; Department of Pediatrics, Jichi Medical School, Shimotsuke, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. hsaitsu@hama-med.ac.jp.
J Hum Genet ; 65(10): 921-925, 2020 Oct.
Article in En | MEDLINE | ID: mdl-32483275
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Polymerase III / Introns / Pseudogenes / Protein Isoforms / Alu Elements / Mutation, Missense / Hereditary Central Nervous System Demyelinating Diseases / Autism Spectrum Disorder / Muscle Hypotonia Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Polymerase III / Introns / Pseudogenes / Protein Isoforms / Alu Elements / Mutation, Missense / Hereditary Central Nervous System Demyelinating Diseases / Autism Spectrum Disorder / Muscle Hypotonia Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication: