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:C0025362 (
mental retardation
)
15,878
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Clinical and molecular studies are reported on a family (
MRX73
) of five males with non-specific X-linked
mental retardation
(XLMR). A total of 33 microsatellite and RFLP markers was typed. The gene for this XLMR condition was been linked to DXS1195, with a lod score of 2.36 at theta = 0. The haplotype and multipoint linkage analyses suggest localization of the
MRX73
locus to an interval of 2 cM defined by markers DXS8019 and DXS365, in Xp22.2. This interval contains the gene of Coffin-Lowry syndrome (RSK2), where a missense mutation has been associated with a form of non-specific
mental retardation
. Therefore, a search for RSK2 mutations was performed in the
MRX73
family, but no causal mutation was found. We hypothesize that another unidentified XLMR gene is located near RSK2.
...
PMID:Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. 1147 16
