Načítá se...
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
Uniparental isodisomy (UPiD) is a rare genetic event that occurs when two identical copies of a single chromosome are inherited from one parent. Here we report a patient with a severe, multisystem metabolic disorder who inherited two copies of Chromosome 12 from her father. He was a heterozygous car...
Uloženo v:
| Vydáno v: | Cold Spring Harb Mol Case Stud |
|---|---|
| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Cold Spring Harbor Laboratory Press
2019
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6913148/ https://ncbi.nlm.nih.gov/pubmed/31653659 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004457 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|