VARIANT: 1837v1
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Entry
1837v1 Variant
Name
DTNA mutation
Type
Loss of function
Gene
DTNA
dystrobrevin alpha [KO:
K26998
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
601239
Network
nt06539
Cytoskeleton in muscle cells
Disease
H01216
Left ventricular noncompaction
Reference
PMID:
11238270
Authors
Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA
Title
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
Journal
Circulation 103:1256-63 (2001)
DOI:
10.1161/01.cir.103.9.1256
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