Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing

BACKGROUND: Detailed analysis of imprinting center (IC) defects in individuals with Prader–Willi syndrome (PWS) is not readily available beyond chromosomal microarray (MA) analysis, and such testing is important for a more accurate diagnosis and recurrence risks. This is the first feasibility study...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Hartin, Samantha N., Hossain, Waheeda A., Francis, David, Godler, David E., Barkataki, Sangjucta, Butler, Merlin G.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465664/
https://ncbi.nlm.nih.gov/pubmed/30793526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.575
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