Literature DB >> 1284597

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

P L Crotty1, S E Braun, R A Anderson, C B Whitley.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1284597     DOI： 10.1093/hmg/1.9.755

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


× No keyword cloud information.
  12 in total

1.  Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Authors:  Jui-Hung Chang; Shuan-Pei Lin; Shu-Chuan Lin; Kai-Li Tseng; Chia-Ling Li; Chih-Kuang Chuang; Guey-Jen Lee-Chen
Journal:  Hum Genet       Date:  2004-12-22       Impact factor: 4.132

2.  Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.

Authors:  Camelia Alkhzouz; Cecilia Lazea; Simona Bucerzan; Ioana Nascu; Eva Kiss; Carmencita Lucia Denes; Paula Grigorescu-Sido
Journal:  JIMD Rep       Date:  2016-06-29

3.  Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

Authors:  K Isogai; K Sukegawa; S Tomatsu; T Fukao; X Q Song; Y Yamada; S Fukuda; T Orii; N Kondo
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

4.  Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

Authors:  K Sukegawa-Hayasaka; Z Kato; H Nakamura; S Tomatsu; T Fukao; K Kuwata; T Orii; N Kondo
Journal:  J Inherit Metab Dis       Date:  2006-11-07       Impact factor: 4.982

5.  Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

Authors:  P Li; A B Bellows; J N Thompson
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

6.  Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Authors:  E L Aronovich; D Pan; C B Whitley
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

7.  Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase.

Authors:  S E Braun; E L Aronovich; R A Anderson; P L Crotty; R S McIvor; C B Whitley
Journal:  Proc Natl Acad Sci U S A       Date:  1993-12-15       Impact factor: 11.205

8.  Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

Authors:  J J Jonsson; E L Aronovich; S E Braun; C B Whitley
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

9.  Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.

Authors:  Huiwen Zhang; Jing Li; Xinshun Zhang; Yu Wang; Wenjuan Qiu; Jun Ye; Lianshu Han; Xiaolan Gao; Xuefan Gu
Journal:  PLoS One       Date:  2011-08-04       Impact factor: 3.240

10.  Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

Authors:  Mary Anne D Chiong; Daffodil M Canson; Mary Ann R Abacan; Melissa Mae P Baluyot; Cynthia P Cordero; Catherine Lynn T Silao
Journal:  Orphanet J Rare Dis       Date:  2017-01-11       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.