טוען...
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...
שמור ב:
| הוצא לאור ב: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2019
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| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
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