VARIANT: 2752v1
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Entry
2752v1 Variant
Name
GLUL mutation
Type
Loss of function
Gene
GLUL
glutamate-ammonia ligase [KO:
K01915
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
138290
Network
nt06544
Neuroactive ligand signaling
Disease
H00923
Congenital systemic glutamine deficiency
Reference
PMID:
16267323
Authors
Haberle J, Gorg B, Rutsch F, Schmidt E, Toutain A, Benoist JF, Gelot A, Suc AL, Hohne W, Schliess F, Haussinger D, Koch HG
Title
Congenital glutamine deficiency with glutamine synthetase mutations.
Journal
N Engl J Med 353:1926-33 (2005)
DOI:
10.1056/NEJMoa050456
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