Mutation c.1190-1delg-n in intron 8and c.1708g>c-n in exon 12 not reportedin theiduagene developed a clinicalphenotype of scheie syndrome. Report as inadecuate




Mutation c.1190-1delg-n in intron 8and c.1708g>c-n in exon 12 not reportedin theiduagene developed a clinicalphenotype of scheie syndrome. - Download this document for free, or read online. Document in PDF available to download.

Luis E. Miranda Contreras ; Carlos J. Chávez ; Ernesto Solis Añez ; Francisco Cammarata-Scalisi ;Investigación Clínica 2014, 55 4

Author: Wilmer N. Delgado Luengo

Source: http://www.redalyc.org/articulo.oa?id=372937033007


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Investigación Clínica ISSN: 0535-5133 riclinicas@gmail.com Universidad del Zulia Venezuela Delgado Luengo, Wilmer N.; Miranda Contreras, Luis E.; Chávez, Carlos J.; Solis Añez, Ernesto; Cammarata-Scalisi, Francisco Mutation c.1190-1delG-N in intron 8and c.1708G C-N in exon 12 not reportedin theIDUAgene developed a clinicalphenotype of Scheie syndrome. Investigación Clínica, vol.
55, núm.
4, diciembre, 2014, pp.
365-370 Universidad del Zulia Maracaibo, Venezuela Disponible en: http:--www.redalyc.org-articulo.oa?id=372937033007 Cómo citar el artículo Número completo Más información del artículo Página de la revista en redalyc.org Sistema de Información Científica Red de Revistas Científicas de América Latina, el Caribe, España y Portugal Proyecto académico sin fines de lucro, desarrollado bajo la iniciativa de acceso abierto Invest Clin 55(4): 365 - 370, 2014 Mutation c.1190-1delG-N in intron 8 and c.1708G C-N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome. Wilmer N Delgado Luengo1, Luis E Miranda Contreras1, Carlos J.
Chávez2, Ernesto Solis-Añez1 and Francisco Cammarata-Scalisi3. Institute of Genetic Investigations, Faculty of Medicine, University of Zulia. Maracaibo, Venezuela. 2Institute of Biological Investigations, Faculty of Medicine, University of Zulia. Maracaibo, Venezuela. 3Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes.
Mérida, Venezuela. 1 Keywords: Scheie syndrome, IDUA, c.1190-1delG-N, c.1708G C-N. Abstract.
Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans.
Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is interm...





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