Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

doi:10.1006/mgme.1998.2675

Article

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

Molecular genetics and metabolism - 1 Apr 1998

Reissner K, Tayebi N, Stubblefield B K, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson E M, Sidransky E

Abstract excerpt

Gaucher disease, the deficiency of the lysosomal enzyme glucocerebrosidase (EC 3.2.1.45), is frequently encountered in the Ashkenazi Jewish population. Carrier screening for Gaucher disease by enzyme analysis performed during a routine pregnancy indicated that both Ashkenazi parents were carriers. Screening for four common Gaucher mutations was subsequently performed on fetal and parental DNA. None of the common...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

Abstract excerpt

Topics

Related research