Ontology highlight
ABSTRACT:
SUBMITTER: Slaugenhaupt SA
PROVIDER: S-EPMC1377985 | biostudies-other | 1999 Sep
REPOSITORIES: biostudies-other
Slaugenhaupt S A SA Acierno J S JS Helbling L A LA Bove C C Goldin E E Bach G G Schiffmann R R Gusella J F JF
American journal of human genetics 19990901 3
Mucolipidosis type IV (MLIV) is a lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. It is a rare autosomal recessive disease, and the majority of patients diagnosed, to date, are of Ashkenazi Jewish descent. We have mapped the MLIV gene to chromosome 19p13.2-13.3 by linkage analysis with 15 markers in 13 families. A maximum LOD score of 5.51 with no recombinants was observed with marker D19S873. Several markers in the linked interval also displayed s ...[more]