Ontology highlight
ABSTRACT:
SUBMITTER: Timms KM
PROVIDER: S-EPMC1051389 | biostudies-other | 1998 Aug
REPOSITORIES: biostudies-other
Timms K M KM Edwards F J FJ Belmont J W JW Yates J R JR Gibbs R A RA
Journal of medical genetics 19980801 8
Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been performed using a variety of enzymatic tests. None of these tests has proved to be 100% effective at identifying carriers. The aim of this study was to perform carrier testing in a family affected by the disorder, where testing was complicated by the fact that no surviving affected subjects were ava ...[more]