Huntington Disease without CAG Expansion: Phenocopies or Errors in Assignment?

Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 (IT15). A total of 30 of 1,022 affected persons (2.9% of our cohort) did not have an expanded CAG in the disease range. The reasons for not observing expansion in affected individuals ar...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Andrew, Susan E., Goldberg, Y. Paul, Kremer, Berry, Squitieri, Ferdinando, Theilmann, Jane, Zeisler, Jutta, Telenius, Håkan, Adam, Shelin, Almquist, Elisabeth, Anvret, Maria, Lucotte, Gerard, Stoessl, A. Jon, Campanella, Giuseppe, Hayden, Michael R.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1994
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918249/
https://ncbi.nlm.nih.gov/pubmed/8178825
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak