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UnknownA new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.
Not available
S-EPMC1288294 | biostudies-literature
UnknownTMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
Not available
S-EPMC3398502 | biostudies-literature
UnknownChemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Not available
S-EPMC3869351 | biostudies-literature
UnknownBorate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
Not available
S-EPMC2597979 | biostudies-literature
UnknownPredicting prognosis in ANCA-associated vasculitis with kidney involvement.
Not available
S-EPMC12451443 | biostudies-literature
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