Gene diagnosis and carrier detection in hunter syndrome by the iduronate‐2‐sulphatase cDNA probe
- 1 May 1992
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 15 (3) , 342-346
- https://doi.org/10.1007/bf02435972
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
- Deletion of the hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type IIAmerican Journal of Medical Genetics, 1992
- The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II ? Hunter syndrome)Human Genetics, 1991
- Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndromeHuman Genetics, 1991
- Genetic mapping of new RFLPs at Xq27–q28Genomics, 1991
- Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.Proceedings of the National Academy of Sciences, 1990
- Report of the committee on the genetic constitution of the X chromosome (Part 1 of 3)Cytogenetic and Genome Research, 1989
- X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal XqHuman Genetics, 1985
- Heterozygote detection in hunter syndromeAmerican Journal of Medical Genetics, 1984