ANALYSIS OF PEROXISOMES IN LYMPHOBLASTS - ZELLWEGER SYNDROME AND A PATIENT WITH A DELETION IN CHROMOSOME-7

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dc.contributor.authorSANTOS, MJ
dc.contributor.authorMOSER, AB
dc.contributor.authorDRWINGA, H
dc.contributor.authorMOSER, HW
dc.contributor.authorLAZAROW, PB
dc.date.accessioned2025-01-23T19:21:48Z
dc.date.available2025-01-23T19:21:48Z
dc.date.issued1993
dc.description.abstractLymphoblasts are useful cells for the diagnosis and basic studies of several human genetic disorders. Peroxisomal disorders are usually diagnosed by using fibroblasts or blood samples. Here, we report the characterization of peroxisomes in lymphoblasts. We demonstrated that lymphoblasts from a patient with Zellweger syndrome, the prototypical disorder of peroxisome biogenesis, contained peroxisomal ghosts like those described previously in Zellweger fibroblasts. We also found that lymphoblasts that carry a deletion on chromosome 7 (q11.23q22.1), a region thought to contain one Zellweger syndrome gene, contained normal peroxisomes.
dc.description.funderNIADDK NIH HHS
dc.fuente.origenWOS
dc.identifier.issn0031-3998
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/98876
dc.identifier.wosidWOS:A1993LA51200003
dc.issue.numero5
dc.language.isoen
dc.pagina.final444
dc.pagina.inicio441
dc.revistaPediatric research
dc.rightsacceso restringido
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleANALYSIS OF PEROXISOMES IN LYMPHOBLASTS - ZELLWEGER SYNDROME AND A PATIENT WITH A DELETION IN CHROMOSOME-7
dc.typeartículo
dc.volumen33
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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