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Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.
Chouery, Eliane; Mehawej, Cybel; Mansour, Aline; Corbani, Sandra; Korban, Rima; Zalloum, Richard; Megarbane, Andre.
Afiliación
  • Chouery E; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Mehawej C; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Mansour A; Department of Obstetrics and Gynecology, Lebanese University of medical sciences, Beirut, Lebanon.
  • Corbani S; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Korban R; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Zalloum R; Department of Internal Medicine, Division of Cardiology, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Clin Genet ; 2024 Aug 18.
Article en En | MEDLINE | ID: mdl-39155385
ABSTRACT
All reported ABL1 gain of function and loss of function (LOF) variants, impact both isoforms 1a and 1b. Our findings suggest that LOF variants affecting solely ABL1 isoform 1b may lead to a distinct autosomal recessive new phenotype.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: Líbano Pais de publicación: Dinamarca
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: Líbano Pais de publicación: Dinamarca