TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

The Val30Met transthyretin familial amyloid polyneuropathy (TTR-V30M-FAP) is the most frequent familial amyloidosis, with autosomal dominant transmission. This severe disease shows important differences in age of onset and penetrance. Recently, a difference in penetrance according to the gender of t...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Bonaïti, Bernard, Olsson, Malin, Hellman, Urban, Suhr, Ole, Bonaïti-Pellié, Catherine, Planté-Bordeneuve, Violaine
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2010
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987385/
https://ncbi.nlm.nih.gov/pubmed/20234390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.36
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg