PSEN1
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Pathology
germline mutations of PSEN1
- chromosome 14-linked early-onset Alzheimer disease (Locus 3) (MIM.607822)
- Alzheimer disease preceded by spastic paraparesis and apraxia (MIM.607822)
- Pick disease (MIM.172700)
- dilated cardiomyopathy (MIM.115200)
See also
presenilins (PSENs)
- PSEN1 and PSEN2
References
Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. PMID: #17186461#