Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene-Reference-Cited by-同舟云学术

Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene

Published:2014-04 Issue:4 Volume:41 Page:197-203
ISSN:1673-8527
Container-title:Journal of Genetics and Genomics
language:en
Short-container-title:Journal of Genetics and Genomics

Author:

Chistiakov Dimitry A.,Kuzenkova Lyudmila M.,Savost'anov Kirill V.,Gevorkyan Anait K.,Pushkov Alexander A.,Nikitin Alexey G.,Vashakmadze Nato D.,Zhurkova Natalia V.,Podkletnova Tatiana V.,Namazova-Baranova Leila S.,Baranov Alexander A.

Publisher

Elsevier BV

Subject

Genetics,Molecular Biology

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3. The linkage relation of the loci for the Xm serum system and the X-linked form of Hurler's syndrome (Hunter's syndrome);Berg;Am. J. Hum. Genet.,1968

4. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management;Braunlin;J. Inherit. Metab. Dis.,2011

5. Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II;Bunge;Eur. J. Hum. Genet.,1998

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