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- Gerding, Wanda Maria; Koetting, Judith; Rey, Lucía Paola; Bibas Bonet, Hilda; Abdala, Mirta Esther; Mazzeo, Anna; Mostacciuolo, Maria Luisa; Arning, Larissa; Carrero-Valenzuela, Roque
- Molecular and cellular probes 2013 v.27 pp. 118-121
- DNA; alleles; brothers; connexins; exons; females; gap junctions; heterozygosity; males; microsatellite repeats; mutation; patients; peripheral nervous system diseases; probability
- ... X-linked Charcot–Marie-Tooth disease (CMT Type X1, OMIM: 302800) represents a frequent cause of hereditary peripheral motor and sensory neuropathies and is associated with mutations in GJB1 encoding the gap junction beta 1 protein connexin 32 (Cx32). Studying an Argentinean family of Italian origin with seven affected males in three generations exhibiting clinical signs of CMT, eight obligate fema ...
- Leguizamón, John; Hernández, Johana; Murcia, Martha-Isabel; Soto, Carlos-Yesid
- Molecular and cellular probes 2013 v.27 pp. 46-52
- DNA; HIV infections; Mycobacterium avium complex; active sites; amino acids; bioinformatics; biomarkers; host preferences; lymphatic diseases; monitoring; pathogenicity; patients; random amplified polymorphic DNA technique; signal peptide; thin layer chromatography; Colombia; Europe
- ... Mycobacterium avium complex (MAC) consists of 9 species of slow-growing mycobacteria with differing degrees of pathogenicity, host preference and environmental distribution. Mycobacterium colombiense is a novel member of MAC that is responsible for disseminated infections in HIV-infected patients in Colombia and lymphadenopathy cases in Europe. At present, methods to easily differentiate novel mem ...