Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0085631 (
agitation
)
12,064
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in the coding region of the
angiotensin II type 2 receptor
gene (AGTR2) were recently identified to cause X-linked recessive mental retardation. We report a mutation screening of the AGTR2 gene in 57 Finnish male patients with non-syndromic mental retardation. We identified two mutations, a 62G-->T transversion, which leads to a substitution of glycine for valine (G21V) and a 157A-->T transversion, which causes a substitution of isoleucine for phenylalanine (I53F). The patients with AGTR2 sequence variants had severe/profound mental retardation, epileptic seizures,
restlessness
, hyperactivity, and disturbed development of speech.
...
PMID:Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation. 1472 54
