PW03-013 - Behçet's disease: genotype-phenotype correlations

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PW03-013 - Behçet's disease: genotype-phenotype correlations

Introduction Although the therapy for Behçet’s disease (BD) has improved since infliximab was approved for refractory retinochoroiditis therapy in Japan, the exact pathogenesis of BD remains unclear. Our recent genome-wide association study has identified the IL10 and IL23RIL12RB2 loci as susceptibility genes for BD, in addition to HLA-A*26 and B*51. rs1495965 is located in the intergenic regio...

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Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients

Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...

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Perianal Crohn's disease: predictive factors and genotype-phenotype correlations.

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Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients

von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. Genotype-phenotype correlations in Chinese VHL patients have been unclear. To establish genotype-phenotype correlations in Chinese VHL patients, we collected VHL mutations and phenotypes of 291 patients with VHL disease from 115 unrelated families. Genotype-phenotype correlatio...

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ژورنال

عنوان ژورنال: Pediatric Rheumatology

سال: 2013

ISSN: 1546-0096

DOI: 10.1186/1546-0096-11-s1-a239