Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

doi:10.1136/adc.79.3.237

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Article

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

Archives of disease in childhood - 1 Sept 1998

Vafiadaki E, Cooper A, Heptinstall L E, Hatton C E, Thornley M, Wraith J E

Abstract excerpt

Genomic DNA from 57 unrelated MPS II (Hunter's disease) patients was analysed for mutations of the iduronate sulphatase (IDS) gene. The aim of the study was threefold: to identify the primary genetic lesion in patients, to investigate the correlation between genotype and phenotype, and most impor...

Topics

Adolescent
Adult
Child
Child, Preschool
DNA Mutational Analysis
DNA Primers
Female
Genetic Carrier Screening
Genotype
Humans
Iduronate Sulfatase
Infant
Male
Mucopolysaccharidosis II
Mutation
Phenotype

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