Correo Electrónico
DNINFOA - SIA
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Browsing by Author "Bonafe, Luisa"
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Report of a novel mutation in the slc26a2 gene foud in a colomian adult patient with diastrophic dysplasia
Background. Diastrophic dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter. This sindrome is a micromelic dysplasia with multiple ...Universidad Nacional de Colombia Revistas electrónicas UN Revista de la Facultad de Medicina. -
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia
Diastrophic Dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter.Thissyndromeis amicromelic dysplasia with multiplebone deformities ...Universidad Nacional de Colombia Revistas electrónicas UN Revista de la Facultad de Medicina.
