Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression-Reference-Cited by-同舟云学术

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Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

Published:1992-12-01 Issue:9 Volume:1 Page:755-757
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Crotty P. L.,Braun S. E.,Anderson R. A.,Whitley C. B.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/1/9/755/1972883/1-9-755.pdf

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1. Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing;Clinica Chimica Acta;2022-01

2. Lysosomal storage diseases: mucopolysaccharidosis type I and II;Pediatrician (St. Petersburg);2021-10-13

3. A molecular genetics view on Mucopolysaccharidosis Type II;Mutation Research/Reviews in Mutation Research;2021-07

4. Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II);International Journal of Molecular Sciences;2019-12-23

5. Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS;Diseases;2019-06-26

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