VARIANT: 5350v1
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Entry
5350v1 Variant
Name
PLN mutation
Type
Loss of function
Gene
PLN
phospholamban [KO:
K05852
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
172405
Network
nt06528
Calcium signaling
Disease
H00294
Dilated cardiomyopathy
Reference
PMID:
12639993
Authors
Haghighi K, Kolokathis F, Pater L, Lynch RA, Asahi M, Gramolini AO, Fan GC, Tsiapras D, Hahn HS, Adamopoulos S, Liggett SB, Dorn GW 2nd, MacLennan DH, Kremastinos DT, Kranias EG
Title
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
Journal
J Clin Invest 111:869-76 (2003)
DOI:
10.1172/JCI17892
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