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.
about
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutationCSPα-chaperoning presynaptic proteins.SAAFEC: Predicting the Effect of Single Point Mutations on Protein Folding Free Energy Using a Knowledge-Modified MM/PBSA Approach.On human disease-causing amino acid variants: statistical study of sequence and structural patterns.Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.Advances in Human Biology: Combining Genetics and Molecular Biophysics to Pave the Way for Personalized Diagnostics and Medicine
P2860
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.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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name
A novel p.Leu
@nl
A novel p.Leu(381)Phe mutation ...... ypically seen in Kufs disease.
@en
type
label
A novel p.Leu
@nl
A novel p.Leu(381)Phe mutation ...... ypically seen in Kufs disease.
@en
prefLabel
A novel p.Leu
@nl
A novel p.Leu(381)Phe mutation ...... ypically seen in Kufs disease.
@en
P2093
P2860
P356
P1476
A novel p.Leu(381)Phe mutation ...... ypically seen in Kufs disease.
@en
P2093
Emil Alexov
Fiorella Sperziani
Guang Y Wen
Jeffrey Messing
Michael A Gonzalez
Milen Velinov
Natalia Dolzhanskaya
Shannon Stefl
P2860
P356
10.3233/JAD-131340
P577
2014-01-01T00:00:00Z