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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL in the Philadelphia chromosome of leukemia cancer cells(1). Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants co-segregating with an autosomal dominant disorder...

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Detalles Bibliográficos
Autores principales:	Wang, Xia, Charng, Wu-Lin, Chen, Chun-An, Rosenfeld, Jill A., Shamsi, Aisha Al, Al-Gazali, Lihadh, McGuire, Marianne, Mew, Nicholas Ah, Arnold, Georgianne L., Qu, Chunjing, Ding, Yan, Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Walkiewicz, Magdalena, Xia, Fan, Plon, Sharon E., Lupski, James R., Schaaf, Christian P., Yang, Yaping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373987/ https://www.ncbi.nlm.nih.gov/pubmed/28288113 http://dx.doi.org/10.1038/ng.3815

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