Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to
assemble and peer-review its pathway modules. The integration of ORCID within Reactome
enables us to meet a key challenge with authoring, curating and reviewing biological
information by incentivizing and crediting the external experts that contribute their
expertise and time to the Reactome curation process. More information is available at
ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please
forward this information to us and we will update your Reactome pathway records.
Details on Person Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
| Class:Id | LiteratureReference:2207697 |
|---|
| _displayName | Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients |
|---|
| _timestamp | 2012-04-27 09:23:14 |
|---|
| author | [Person:1678656] Bunge, S
[Person:1678632] Kleijer, WJ
[Person:2207688] Steglich, C
[Person:2206294] Beck, M
[Person:2207690] Zuther, C
[Person:1638036] Morris, CP
[Person:2207698] Schwinger, E
[Person:1638037] Hopwood, JJ
[Person:1678670] Scott, HS
[Person:446309] Gal, A |
|---|
| created | [InstanceEdit:2207696] Jassal, B, 2012-04-27 |
|---|
| journal | Hum Mol Genet |
|---|
| modified | [InstanceEdit:2207702] Jassal, B, 2012-04-27 |
|---|
| pages | 861-6 |
|---|
| pubMedIdentifier | 7951228 |
|---|
| title | Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients |
|---|
| volume | 3 |
|---|
| year | 1994 |
|---|
| (literatureReference) | [FailedReaction:2206299] Defective IDUA does not hydrolyse Heparan sulfate chain(6) [Homo sapiens]
[FailedReaction:9036037] Defective IDUA does not hydrolyse Heparan sulfate chain(1) [Homo sapiens]
[FailedReaction:9036041] Defective IDUA does not hydrolyse the unsulfated alpha-L-iduronosidic link in DS [Homo sapiens] |
|---|
|
[Change default viewing format]
|
No pathways have been reviewed or authored by Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients (2207697)