IDUA c.187C>T ;(p.Q63*)

Variant ID: 4-981625-C-T

NM_000203.3(IDUA):c.187C>T;(p.Q63*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Frontiers In Molecular Biosciences
Voskoboeva, E Yu EY; Bookina, T M TM; Semyachkina, A N AN; Mikhaylova, S V SV; Vashakmadze, N D ND; Baydakova, G V GV; Zakharova, E Yu EY; Kutsev, S I SI
Publication Date: 2021

Variant appearance in text: IDUA: 187C>T; Gln63Ter
PubMed Link: 35141277
Variant Present in the following documents:
  • Main text
  • fmolb-08-783644.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: Q63X
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page



An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Orphanet Journal Of Rare Diseases
Kingma, Sandra D K SD; Langereis, Eveline J EJ; de Klerk, Clasine M CM; Zoetekouw, Lida L; Wagemans, Tom T; IJlst, Lodewijk L; Wanders, Ronald J A RJ; Wijburg, Frits A FA; van Vlies, Naomi N
Publication Date: 2013-07-09

Variant appearance in text: IDUA: Q63X
PubMed Link: 23837464
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-99.pdf
View BVdb publication page