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Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Gazzaz, Nour; Frost, F Graeme; Alderman, Emily; Richmond, Phillip A; Dalmann, Joshua; Lin, Susan; Salman, Areesha; Del Bel, Kate L; Lehman, Anna; Turvey, Stuart E; Boerkoel, Cornelius F; Cherukuri, Praveen F.
Affiliation
  • Gazzaz N; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Frost FG; Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Alderman E; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Richmond PA; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Dalmann J; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Lin S; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Salman A; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Del Bel KL; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Lehman A; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Turvey SE; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Boerkoel CF; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Cherukuri PF; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Am J Med Genet A ; 188(10): 3089-3095, 2022 10.
Article in En | MEDLINE | ID: mdl-35946377
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peutz-Jeghers Syndrome Type of study: Prognostic_studies / Screening_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Canada
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peutz-Jeghers Syndrome Type of study: Prognostic_studies / Screening_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Canada