Journal article icon

Journal article

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis I

Abstract:

Mucopolysaccharidosis Type I is a lysosomal storage disorder with varying degrees of phenotypic severity caused by mutations in IDUA. Over 200 disease-causing variants in IDUA have been reported. We describe the profile of disease-causing variants in 291 individuals with Mucopolysaccharidosis Type I for whom IDUA sequencing was performed, focussing on the UK subset of the cohort. A total of 63 variants were identified, of which 20 were novel, and the functional significance of the novel varia...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

Actions


Access Document


Files:
Publisher copy:
10.1002/humu.23301

Authors


Mackinnon, S More by this author
More by this author
Department:
Oxford, MSD, NDM, Structural Genomics Consortium
Expand authors...
Publisher:
Wiley Publisher's website
Journal:
Human Mutation Journal website
Volume:
38
Issue:
11
Pages:
1555–1568
Publication date:
2017-08-17
Acceptance date:
2017-07-24
DOI:
ISSN:
1098-1004
Pubs id:
pubs:713231
URN:
uri:fa0235eb-48fe-4e3e-b3a5-5f221bec3470
UUID:
uuid:fa0235eb-48fe-4e3e-b3a5-5f221bec3470
Local pid:
pubs:713231

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP