VARIANT: 1830v1
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Entry
1830v1 Variant
Name
DSG3 mutation
Type
Loss of function
Gene
DSG3
desmoglein 3 [KO:
K07598
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutaitons
OmimVar:
169615
Network
nt06545
Cornified envelope formation
Disease
H02648
Acantholytic blistering of the oral and laryngeal mucosa
Reference
PMID:
30528827
Authors
Kim JH, Kim SE, Park HS, Lee SH, Lee SE, Kim SC
Title
A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and Laryngeal Mucosa.
Journal
J Invest Dermatol 139:1187-1190 (2019)
DOI:
10.1016/j.jid.2018.09.038
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