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VARIANT: 3988v1
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Entry
3988v1 Variant
Name
LIPA deficiency
Gene
LIPA
lipase A, lysosomal acid type [KO:
K01052
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
613497
Network
nt06535
Efferocytosis
Disease
H00148
Lysosomal acid lipase deficiency
Drug target
Sebelipase alfa:
D10377
<JP/US>
Reference
PMID:
31230978
Authors
Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY
Title
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.
Journal
Mol Genet Metab 127:212-215 (2019)
DOI:
10.1016/j.ymgme.2019.06.005
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