Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease

Chromosomal aberrations include translocations, deletions, duplications, inversions, aneuploidies and complex rearrangements. They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity...

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Detalles Bibliográficos
Autores principales: Kloosterman, Wigard P, Hochstenbach, Ron
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299681/
https://www.ncbi.nlm.nih.gov/pubmed/25606056
http://dx.doi.org/10.1186/s13039-014-0100-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299681/
https://www.ncbi.nlm.nih.gov/pubmed/25606056
http://dx.doi.org/10.1186/s13039-014-0100-9

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