Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Prader Willi and Angelman syndromes are clinically distinct genetic disorders both mapping to chromosome region 15q11-q13, which are caused by a loss of function of paternally or maternally inherited genes in the region, respectively. With clinical diagnosis often being difficult, particularly in in...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Boyle, Jennifer, Hawkins, Malcolm, Barton, David E, Meaney, Karen, Guitart, Miriam, O'Grady, Anna, Tobi, Simon, Ramsden, Simon C, Elles, Rob, Gray, Elaine, Metcalfe, Paul, Hawkins, J Ross
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2011
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3172937/
https://ncbi.nlm.nih.gov/pubmed/21587322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.59
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items