IDUA c.719A>G ;(p.H240R)

Variant ID: 4-995596-A-G

NM_000203.3(IDUA):c.719A>G;(p.H240R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.

International Journal Of Neonatal Screening
Yu, Seok-Ho SH; Pollard, Laura L; Wood, Tim T; Flanagan-Steet, Heather H; Steet, Richard R
Publication Date: 2020-11-12

Variant appearance in text: IDUA: His240Arg
PubMed Link: 33198351
Variant Present in the following documents:
  • Main text
  • IJNS-06-00088.pdf
View BVdb publication page



Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.

Molecular Genetics And Metabolism
Chen, Agnes H AH; Harmatz, Paul P; Nestrasil, Igor I; Eisengart, Julie B JB; King, Kelly E KE; Rudser, Kyle K; Kaizer, Alexander M AM; Svatkova, Alena A; Wakumoto, Amy A; Le, Steven Q SQ; Madden, Jacqueline J; Young, Sarah S; Zhang, Haoyue H; Polgreen, Lynda E LE; Dickson, Patricia I PI
Publication Date: 2020-02

Variant appearance in text: IDUA: H240R
PubMed Link: 31839529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clinical Genetics
Clarke, Lorne A LA; Giugliani, Roberto R; Guffon, Nathalie N; Jones, Simon A SA; Keenan, Hillary A HA; Munoz-Rojas, Maria V MV; Okuyama, Torayuki T; Viskochil, David D; Whitley, Chester B CB; Wijburg, Frits A FA; Muenzer, Joseph J
Publication Date: 2019-10

Variant appearance in text: IDUA: H240R
PubMed Link: 31194252
Variant Present in the following documents:
  • Main text
  • CGE-96-281.pdf
View BVdb publication page



Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases
Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB
Publication Date: 2017-07-04

Variant appearance in text: IDUA: H240R
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page



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

Nature Chemical Biology
Bie, Haiying H; Yin, Jiang J; He, Xu X; Kermode, Allison R AR; Goddard-Borger, Ethan D ED; Withers, Stephen G SG; James, Michael N G MN
Publication Date: 2013-11

Variant appearance in text: IDUA: H240R
PubMed Link: 24036510
Variant Present in the following documents:
  • NIHMS3970-supplement-1.pdf
View BVdb publication page