Laddar...

PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease

An in depth study of PSEN1 mutation p.Thr116Ile (c.335C>T) is presented from two Korean families with autosomal dominant inheritance. Clinical manifestation of our patients included memory loss, attention deficits, visuospatial dysfunction, agnosia, aphasia, apraxia, and personality changes, whic...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Int J Mol Sci
Huvudupphovsmän: Bagyinszky, Eva, Lee, Hye-Mi, Van Giau, Vo, Koh, Seong-Beom, Jeong, Jee Hyang, An, Seong Soo A., Kim, SangYun
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2018
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6164060/
https://ncbi.nlm.nih.gov/pubmed/30200536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19092604
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!