Chargement en cours...
Prader-Willi syndrome is caused by disruption of the SNRPN gene.
A Prader-Willi syndrome patient is described who has a de novo balanced translocation, (4;15)(q27;q11.2)pat, with breakpoints lying between SNRPN exons 2 and 3. Parental-origin studies indicate that there is no uniparental disomy and no apparent deletion. This patient expresses ZNF127, SNRPN exons 1...
Enregistré dans:
| Auteurs principaux: | , , , , |
|---|---|
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
1999
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1377704/ https://ncbi.nlm.nih.gov/pubmed/9915945 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|