Article

Mutations in Jewish patients with Gaucher disease

1992-04-01

Abstract excerpt

DNA from 100 unrelated patients, 97 of whom were Jewish and three half- Jewish, was analyzed for 22 mutations known to cause Gaucher disease. All but seven of the alleles were identified as having previously described mutations. Five of the unidentified mutations proved to be a previously undescribed nucleotide substitution in a splice junction (IVS2+1) that causes skipping of exon 2. Thus, only 2 of 197 alleles r...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 70a2b1d8-a776-5692-8221-560772e3003f
DOI: 10.1182/blood.v79.7.1662.bloodjournal7971662

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutations in Jewish patients with Gaucher diseaseDOI 10.1182/blood.v79.7.1662.bloodjournal7971662Read

Mutations in Jewish patients with Gaucher disease.Semantic proximity Read

Gaucher disease mutations in non-Jewish patients.Semantic proximity Read

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.Semantic proximity Read

Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.Semantic proximity Read

Identification of six new Gaucher disease mutations.Semantic proximity Read

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.Semantic proximity Read

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.Semantic proximity Read

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.Semantic proximity Read

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.Semantic proximity Read

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.Semantic proximity Read

Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase MutationsSemantic proximity Read

Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.Semantic proximity Read