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A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
Kurolap, Alina; Barel, Dalit; Shaul Lotan, Nava; Wexler, Isaiah; Chai Gadot, Chofit; Mory, Adi; Barel, Ortal; Almashanu, Shlomo; Baris Feldman, Hagit.
Affiliation
  • Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Barel D; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Shaul Lotan N; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Wexler I; Department of Pediatrics, Hadassah Medical Organization, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Chai Gadot C; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Mory A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Barel O; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Ramat Gan, Israel.
  • Almashanu S; National Newborn Screening Program, Public Health Services, Ministry of Health, Ramat Gan, Israel.
  • Baris Feldman H; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.. Electronic address: hagitbf@tlvmc.gov.il.
Mol Genet Metab ; 140(3): 107702, 2023 11.
Article in En | MEDLINE | ID: mdl-37776842
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Full text: 1 Database: MEDLINE Main subject: Propionic Acidemia Type of study: Prognostic_studies Limits: Child / Humans / Newborn Language: En Year: 2023 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Propionic Acidemia Type of study: Prognostic_studies Limits: Child / Humans / Newborn Language: En Year: 2023 Type: Article