Wird geladen...
Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly
Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta-globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator-2 -containing complex (ASCOM). Heterozygous germline mutatio...
Gespeichert in:
| Veröffentlicht in: | Clin Genet |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2019
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6690755/ https://ncbi.nlm.nih.gov/pubmed/31282990 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13598 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|