Chargement en cours...

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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Mol Cytogenet
Auteurs principaux: Kloosterman, Wigard P, Hochstenbach, Ron
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4299681/
https://ncbi.nlm.nih.gov/pubmed/25606056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0100-9
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!