6 research outputs found
Clinical characteristics of pulmonary arterial hypertension (PAH) associated with congenital heart disease: baseline results from the THALES (Turkish Congenital Heart Disease-associated PAH) Registry
No full textDeletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
No full textWe carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature
Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
No full textPubMed ID: 15641267We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature
