Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

doi:10.1111/j.1399-0004.1998.tb02746.x

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Article

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

Clinical genetics - 1 May 1998

Froissart R, Maire I, Millat G, Cudry S, Birot A M, Bonnet V, Bouton O, Bozon D

Abstract excerpt

We studied 70 unrelated Hunter patients and found a gene alteration in every patient. The molecular heterogeneity was very important. Large gene rearrangements were identified in 14 patients. Forty-three different mutations were identified in the 56 other patients and 31 were not previously descr...

Topics

Blotting, Southern
DNA
DNA Mutational Analysis
Family
Family Health
Female
Gene Deletion
Genes
Genotype
Humans
Iduronate Sulfatase
Male
Mucopolysaccharidosis II
Mutation
Phenotype

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