Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.

Sage, Adam P; Lee, Hyun Kyung; Dalmann, Joshua; Lin, Susan; Samra, Simran; Salman, Areesha; Del Bel, Kate L; Li, Wenhui Laura; Lehman, Anna; Turvey, Stuart E; Boerkoel, Cornelius F; Richmond, Phillip A

Sage, Adam P; Lee, Hyun Kyung; Dalmann, Joshua; Lin, Susan; Samra, Simran; Salman, Areesha; Del Bel, Kate L; Li, Wenhui Laura; Lehman, Anna; Turvey, Stuart E; Boerkoel, Cornelius F; Richmond, Phillip A.

Afiliación

Sage AP; MD Undergraduate Program, University of British Columbia, Vancouver, British Columbia, Canada.
Lee HK; 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.
Samra 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.
Li WL; Breakthrough Genomics, Irvine, California, USA.
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; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Richmond PA; 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.

Am J Med Genet A ; 191(8): 2219-2224, 2023 08.

Article en En | MEDLINE | ID: mdl-37196051

Asunto(s)

Haploinsuficiencia; Sitios de Empalme de ARN; Humanos; Sitios de Empalme de ARN/genética; Haploinsuficiencia/genética; Empalme Alternativo/genética; ARN Mensajero/genética; ARN Mensajero/metabolismo; Mutación; Cadenas Pesadas de Clatrina/genética

Palabras clave

CLTC; cryptic splice acceptor; intellectual disability; nonsense mediated mRNA decay

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Sitios de Empalme de ARN / Haploinsuficiencia Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Canadá

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