Ontology highlight
ABSTRACT:
SUBMITTER: Germain DP
PROVIDER: S-EPMC1377310 | biostudies-other | 1998 Aug
REPOSITORIES: biostudies-other
Germain D P DP Puech J P JP Caillaud C C Kahn A A Poenaru L L
American journal of human genetics 19980801 2
Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the rare genetic diseases now accessible to therapy. Outside the Ashkenazi Jewish community, a high molecular diversity is observed, leaving approximately 30% of alleles undetected. Nevertheless, very few exhaustive methods have been developed for extensive gene screening of a large series of patients. Our approach for a complete search of mutations was the association of fluorescent chemical cleavage of mis ...[more]