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Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.
Maryami, Fereshteh; Davoudi-Dehaghani, Elham; Khalesi, Nasrin; Rismani, Elham; Rahimi, Hamzeh; Talebi, Saeed; Zeinali, Sirous.
Affiliation
  • Maryami F; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran.
  • Davoudi-Dehaghani E; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran.
  • Khalesi N; Department of Pediatrics and Neonatal Intensive Care Unit, Ali-Asghar Children's Hospital, Iran University of Medical Sciences, Shahid Vahid Dastgerdi Street, Modarres Highway, Tehran, Iran. nasrinkhalessi@yahoo.com.
  • Rismani E; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran.
  • Rahimi H; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran.
  • Talebi S; Texas Biomedical Research Center, San Antonio, USA.
  • Zeinali S; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran.
Mol Genet Genomics ; 298(4): 905-917, 2023 Jul.
Article in En | MEDLINE | ID: mdl-37131081
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Propionic Acidemia Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Mol Genet Genomics Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Propionic Acidemia Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Mol Genet Genomics Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2023 Document type: Article Affiliation country: Country of publication: