Učitavanje...

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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: Hartin, Samantha N., Hossain, Waheeda A., Francis, David, Godler, David E., Barkataki, Sangjucta, Butler, Merlin G.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!