MPS II in females: molecular basis of two different cases

Wild type IDS cDNA and L41P mutant cDNA were transiently expressed in COS cells and normal human skin fibroblasts and stably expressed in LÎ² del. 6 The processing of the wild type IDS protein is identical in all these cells. 5 6 After a three hour pulse, COS cells, normal fibroblasts, and LÎ² del t...

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Veröffentlicht in:	Journal of medical genetics 2000-10, Vol.37 (10), p.e29-29
Hauptverfasser:	CUDRY, STÉPHANE, TIGAUD, ISABELLE, FROISSART, ROSELINE, BONNET, VÉRONIQUE, MAIRE, IRÈNE, BOZON, DOMINIQUE
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Blotting, Southern Cell Line Child Child, Preschool Chromosome Deletion Chromosomes Cloning Disease DNA Methylation Dosage Compensation, Genetic Electronic Letters Fatal Outcome Female Females Fibroblasts France Genes Genes, Recessive - genetics Humans Hybrid Cells - drug effects Hybrid Cells - enzymology Hybrid Cells - metabolism Iduronate Sulfatase - genetics Iduronate Sulfatase - metabolism In Situ Hybridization, Fluorescence Introns - genetics Male Mucopolysaccharidosis II - enzymology Mucopolysaccharidosis II - genetics Mutation Mutation - genetics Ouabain - pharmacology Patients Phenotype Polymorphism, Genetic - genetics RNA, Messenger - analysis RNA, Messenger - genetics Skin X Chromosome - genetics
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