טוען...
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using whole-exome s...
שמור ב:
| Main Authors: | , , , , |
|---|---|
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Elsevier
2013
|
| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3591859/ https://ncbi.nlm.nih.gov/pubmed/23453664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.02.001 |
| תגים: |
הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
|