Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.

Author:

Schroder W,Petruschka L,Wehnert M,Zschiesche M,Seidlitz G,Hopwood J J,Herrmann F H

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. The mucopolysaccharidoses;Neufeld, E.F.; Muenzer, J.,1989

2. Segregation and sporadic cases in families with Hunter's syndrome;Machill, G.; Barbujani, G.; Danieli, G.A.; Herrmann, F.H.;Med Genet,1991

3. Physical localization of the X:autosomal translocation breakpoint from a girl expressing Hunter syndrome using Xq27-Xq28 markers. HGM 1989; 10: 2620A. 4 Suthers GK;Thomas, N.S.T.; Roberts, S.H.; Upadhyaya, M.; Knight, S.; Harper, P.S.,1991

4. An improved assay for iduronate 2-sulfatase in serum and its use in the detection of carriers of the Hunter syndrome;Archer, I.M.; Harper, P.S.; Wusteman, F.S.;Clin Chim Acta,1981

5. Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence of fructose 1- phosphate;Tonnesen, T.; Lykkelund, C.; Guttler, F.;Hum Genet,1982

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1. Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing;Frontiers in Molecular Biosciences;2021-11-05

2. Mucopolysaccharidoses;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

3. The mucopolysaccharidoses;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

4. The Mucopolysaccharidoses;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015

5. Personalized Medicine in Rare Pediatric Neurometabolic Diseases;Neurodegenerative Diseases: Integrative PPPM Approach as the Medicine of the Future;2012-01-05

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