IDUA c.895G>T ;(p.E299*)
Variant ID: 4-995872-G-T
NM_000203.3(IDUA):c.895G>T;(p.E299*)
This variant was identified in 2 publications
Variant-Specific Resource Links:
Publications:
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: E299X
Variant Present in the following documents:
- Main text
- 13023_2017_Article_678.pdf
Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.
Genetics And Molecular Biology
Sun, Luning L; Li, Chunyi C; Song, Xiaoyu X; Zheng, Ningning N; Zhang, Haipeng H; Dong, Guizhang G
Publication Date: 2011-04
Variant appearance in text: IDUA: E299X
Variant Present in the following documents:
- Main text
- gmb-34-2-195.pdf