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PubMed 12540637 Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with ty 1.56 KB 2015-11-13 7 11
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PubMed 10100091 Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population. OBJECTIVE: To evaluate the possible association of three candidate gene po 1.67 KB 2015-11-15 5 6
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PubMed 10102421 Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q) OBJECTIVE: To report a family with X-linked Charcot-Marie-Tooth disease (CMTX) with proven connexin 32 1.4 KB 2015-11-15 5 5
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PubMed 10102580 Release of copper ions from the familial amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutants. Point mutations of Cu,Zn-superoxide dismutase (SOD) have been linked to familial a 1.46 KB 2015-11-15 5 14
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PubMed 10189842 CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. BACKGROUND: Susceptibility to coeliac disease is strongly associated with particular HLA class II alleles. However, non-H 1.69 KB 2015-11-15 5 5
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PubMed 10189855 Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. BACKGROUND: Iron overload is common in the livers of alcoholics and may play a role in disease pathogenesis. 1.43 KB 2015-11-15 6 7
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PubMed 10190322 World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker. Mild hyperhomocysteinemia is associated to mutations either in cystathionine beta-synthase (CBS) 1.44 KB 2015-11-15 5 3
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PubMed 10191107 Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. The infantile form of neuronal ceroid lipofuscinosis (NCL) has been well studied in 1.65 KB 2015-11-15 5 3
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PubMed 10196363 Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder charac 1.4 KB 2015-11-15 6 3
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PubMed 10196694 An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal a 1.09 KB 2015-11-15 12 3
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