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Identification of six new Gaucher disease mutations.
Beutler E, Gelbart T, West C. Beutler E, et al. Among authors: gelbart t. Genomics. 1993 Jan;15(1):203-5. doi: 10.1006/geno.1993.1035. Genomics. 1993. PMID: 8432537
We have now identified six new mutations, a deletion of a C at the 72 position of the cDNA, a 481C-->T mutation (122Pro-->Ser), a 751T-->C (212Tyr-->His), a 1549G-->A (478Gly-->Ser), a 1604G-->A (496Arg-->His), and a 55-bp deletion. ...
We have now identified six new mutations, a deletion of a C at the 72 position of the cDNA, a 481C-->T mutation (122Pro-->Ser), …
Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene.
Sorge J, Gelbart T, West C, Westwood B, Beutler E. Sorge J, et al. Among authors: gelbart t. Proc Natl Acad Sci U S A. 1985 Aug;82(16):5442-5. doi: 10.1073/pnas.82.16.5442. Proc Natl Acad Sci U S A. 1985. PMID: 2991926 Free PMC article.
SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.
Lee PL, Gelbart T, West C, Barton JC. Lee PL, et al. Among authors: gelbart t. Acta Haematol. 2007;118(4):237-41. doi: 10.1159/000112830. Epub 2007 Dec 21. Acta Haematol. 2007. PMID: 18160816
Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications.
Beutler E, Liebman H, Gelbart T, Stefanski E. Beutler E, et al. Among authors: gelbart t. Acta Haematol. 2000;104(2-3):103-5. doi: 10.1159/000039760. Acta Haematol. 2000. PMID: 11154983
We have encountered a patient with three mutations, two c.1226A-->G (1226G, N370S) and one c.1448 T-->C (1448C, L444P). This was shown to be due to a gene conversion event in which the sequence of the glucocerebrosidase pseudogene that includes the 1448C mutation had …
We have encountered a patient with three mutations, two c.1226A-->G (1226G, N370S) and one c.1448 T-->C (1448C, L444P). This wa …
Glucocerebrosidase mutations in Gaucher disease.
Beutler E, Demina A, Gelbart T. Beutler E, et al. Among authors: gelbart t. Mol Med. 1994 Nov;1(1):82-92. Mol Med. 1994. PMID: 8790604 Free PMC article.
Two missense mutations were found in exon 7: a G-->A transition at cDNA nt 887 (Arg257-->Gln) and a C-->T at cDNA nt 970 (Arg285-->Cys). Two missense mutations were found in exon 9: a T-->G at cDNA nt 1249 (Trp378-->Gly) and a G-->A at cDNA nt 1 …
Two missense mutations were found in exon 7: a G-->A transition at cDNA nt 887 (Arg257-->Gln) and a C-->T at cDNA nt 970 (Ar …
Two new Gaucher disease mutations.
Beutler E, Gelbart T. Beutler E, et al. Among authors: gelbart t. Hum Genet. 1994 Feb;93(2):209-10. doi: 10.1007/BF00210614. Hum Genet. 1994. PMID: 8112750
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
Beutler E, Gelbart T. Beutler E, et al. Among authors: gelbart t. Hum Mutat. 1994;4(3):212-6. doi: 10.1002/humu.1380040307. Hum Mutat. 1994. PMID: 7833951
Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.
Zimran A, Gelbart T, Beutler E. Zimran A, et al. Among authors: gelbart t. Am J Hum Genet. 1990 May;46(5):902-5. Am J Hum Genet. 1990. PMID: 1971142 Free PMC article.
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.
Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. Zimran A, et al. Among authors: gelbart t. Am J Hum Genet. 1991 Oct;49(4):855-9. Am J Hum Genet. 1991. PMID: 1897529 Free PMC article.
Mutations in Jewish patients with Gaucher disease.
Beutler E, Gelbart T, Kuhl W, Zimran A, West C. Beutler E, et al. Among authors: gelbart t. Blood. 1992 Apr 1;79(7):1662-6. Blood. 1992. PMID: 1558964
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