IBGC1Idiopathic Basal Ganglia Calcification, 1
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The first missense mutation (P521A) associated with IBGC was found in exon 20 of the CTAGE5 gene in a large American family linked to IBGC1 (13); however, this mutation was not detected in the two affected Brazilian families as well as in this affected Iranian family (4), (17).
Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal gangliacalcification (Fahr's disease).
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.