p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS‐7 cells-Reference-Cited by-同舟云学术

p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS‐7 cells

Published:2017-12-28 Issue:3 Volume:82 Page:150-157
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Ngiwsara Lukana¹^ORCID,Ketudat‐Cairns James R.¹²,Sawangareetrakul Phannee¹,Charoenwattanasatien Ratana¹,Champattanachai Voraratt¹,Kuptanon Chulaluck³,Pangkanon Suthipong³,Tim‐Aroon Thipwimol⁴,Wattanasirichaigoon Duangrurdee⁴,Svasti Jisnuson¹^ORCID

Affiliation:

1. Laboratory of Biochemistry Chulabhorn Research Institute Bangkok Thailand

2. School of Chemistry Institute of Science Suranaree University of Technology Nakhon Ratchasima Thailand

3. Queen Sirikit National Institute of Child Health Bangkok Thailand

4. Division of Medical Genetics Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand

Funder

Chulabhorn Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12236

Reference34 articles.

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2. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: Multiple allelic mutations of the IDUA gene in a small geographic area;Bach G.;American Journal of Human Genetics,1993

3. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

4. Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase

5. Review: The immunochemical analysis of enzyme from mucopolysaccharidoses patients

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