VARIANT: 5663v1 Help
Entry
Name
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
Disease
Reference
Authors
Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M
Title
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
Journal
Reference
Authors
Matsubara-Tsutsui M, Yasuda M, Yamagata H, Nomura T, Taguchi K, Kohara K, Miyoshi K, Miki T
Title
Molecular evidence of presenilin 1 mutation in familial early onset dementia.
Journal
Reference
Authors
Ataka S, Tomiyama T, Takuma H, Yamashita T, Shimada H, Tsutada T, Kawabata K, Mori H, Miki T
Title
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.
Journal
Reference
Authors
Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop PH
Title
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.
Journal
Reference
Authors
Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X
Title
Gamma-secretase gene mutations in familial acne inversa.
Journal
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