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PubMed 15820770 Vitamin D-binding protein gene polymorphism association with IA-2 autoantibodies in type 1 diabetes. BACKGROUND: Vitamin D-binding protein (DBP) is the main systemic transporter of 1.25(OH)2D3 and is 1.43 KB 2015-11-19 26 15 2021-12-05
PubMed 21695597 MHC region and risk of systemic lupus erythematosus in African American women. The major histocompatibility complex (MHC) on chromosome 6p21 is a key contributor to the genetic basis of systemic lupus 1.97 KB 2015-11-26 29 12 2021-12-05
PubMed 21904390 Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. PURPOSE: Aniridia (AN) is a rare congenital panocular disorder caused by the mutations of the paired b 2 KB 2015-11-26 28 19 2021-12-05
PubMed 21976953 Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. PURPOSE: To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS). 1.71 KB 2015-11-26 27 17 2021-12-05
PubMed 21879313 Genotype rs8099917 near the IL28B gene and amino acid substitution at position 70 in the core region of the hepatitis C virus are determinants of serum apolipoprotein B-100 concentration in chronic he 1.89 KB 2025-10-02 31 9 2021-12-05
PubMed 20854438 SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda. BACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a 1.78 KB 2015-11-25 30 17 2021-12-05
PubMed 21080147 Novel CRELD1 gene mutations in patients with atrioventricular septal defect. BACKGROUND: Atrioventricular septal defects (AVSDs) occur as clinical defects of several different syndromes, as autosomal 1.6 KB 2015-11-25 28 18 2021-12-05
PubMed 20708777 Association of DNA polymorphisms within the CYP11B2/CYP11B1 locus and postoperative hypertension risk in the patients with aldosterone-producing adenomas. OBJECTIVES: Hypertension often persists after 1.98 KB 2025-10-02 31 16 2021-12-05
PubMed 20682662 Lack of association of C-C chemokine receptor 5 Δ32 deletion status with rheumatoid arthritis, systemic lupus erythematosus, lupus nephritis, and disease severity. OBJECTIVE: C-C chemokine receptor 5 1.69 KB 2015-11-25 45 16 2021-12-05
PubMed 20949073 Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually ass 1.33 KB 2015-11-25 27 10 2021-12-05