Cloned (Comment) | Organism |
---|---|
gene IDUA, screening and genotyping of nonsense, 4 missense, 1 deletion, and 2 splice site intron mutations in 10 MPS I patients, development and evaluation of a dHPLC screening method, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A327P | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
C577GfsX15 | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
D315Y | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
E640Cfs | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
additional information | gene IDUA, screening and genotyping of nonsense, 4 missense, 1 deletion, and 2 splice site intron mutations in 10 MPS I patients, development and evaluation of a dHPLC screening method, overview | Homo sapiens |
Q380R | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
Q70X | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
R628X | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
V620F | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
W402X | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
W626X | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
Y167X | naturally occuring mutation in the IDUA gene from an MPS I patient | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene IDUA | - |
Synonyms | Comment | Organism |
---|---|---|
alpha-L-iduronidase | - |
Homo sapiens |
alpha-L-iduronidase A | - |
Homo sapiens |
IDUA | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in the IDUA gene cause mucopolysaccharidosis type I, MPS I, a progressive multisystem disorder with features ranging over a continuum from mild to severe which is inherited in an autosomal recessive manner | Homo sapiens |