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Identification of six new Gaucher disease mutations.
Beutler E, Gelbart T, West C. Beutler E, et al. Among authors: west c. 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), …
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: west c. Acta Haematol. 2007;118(4):237-41. doi: 10.1159/000112830. Epub 2007 Dec 21. Acta Haematol. 2007. PMID: 18160816
RESULTS: The proband was heterozygous for the novel mutation c.1402G-->A (predicted G468S) in exon 7 of the ferroportin gene (SLC40A1). ...The truncated ferroportin protein, missing its C-terminal 241 amino acids, would lack all structural motifs beyond transmemb …
RESULTS: The proband was heterozygous for the novel mutation c.1402G-->A (predicted G468S) in exon 7 of the ferroportin gene (SLC4 …
Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
Beutler E, Beutler L, West C. Beutler E, et al. Among authors: west c. J Lab Clin Med. 2004 Aug;144(2):65-8. doi: 10.1016/j.lab.2004.03.013. J Lab Clin Med. 2004. PMID: 15322500
Sequence analysis of the gene encoding cytosolic beta-glucosidase (GBA3) from 4 chromosomes revealed the presence of 4 single-nucleotide substitutions: c.316 G -->A (D106N), c.1353A-->G (Y451Y), c.1368T-->A (Y456X), and c.1540 to 1541AG --> …
Sequence analysis of the gene encoding cytosolic beta-glucosidase (GBA3) from 4 chromosomes revealed the presence of 4 single-nucleotide sub …
Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans.
Beutler E, Barton JC, Felitti VJ, Gelbart T, West C, Lee PL, Waalen J, Vulpe C. Beutler E, et al. Among authors: west c. Blood Cells Mol Dis. 2003 Nov-Dec;31(3):305-9. doi: 10.1016/s1079-9796(03)00165-7. Blood Cells Mol Dis. 2003. PMID: 14636643
A c.744 G-->T (Gln 248 His) mutation was detected among African-Americans at polymorphic frequencies. This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload....
A c.744 G-->T (Gln 248 His) mutation was detected among African-Americans at polymorphic frequencies. This variant is associated w …
Seeking candidate mutations that affect iron homeostasis.
Lee P, Gelbart T, West C, Halloran C, Beutler E. Lee P, et al. Among authors: west c. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):471-87. doi: 10.1006/bcmd.2002.0586. Blood Cells Mol Dis. 2002. PMID: 12547238
Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype.
Beutler E, West C. Beutler E, et al. Among authors: west c. Isr Med Assoc J. 2002 Nov;4(11):986-8. Isr Med Assoc J. 2002. PMID: 12489486
Polymorphisms in the 5' flanking region of the HFE gene: linkage disequilibrium and relationship to iron homeostasis.
Beutler E, West C. Beutler E, et al. Among authors: west c. Blood Cells Mol Dis. 2002 Mar-Apr;28(2):191-5. doi: 10.1006/bcmd.2002.0509. Blood Cells Mol Dis. 2002. PMID: 12064915
These mutations are -970 T-->G and -467 C-->G, numbering from the ATG start codon. When a T was present at -970, a C was always found at -467. The C allele was the less common at nt -467 with a gene frequency of 0.31 in white subjects with wild-type HFE …
These mutations are -970 T-->G and -467 C-->G, numbering from the ATG start codon. When a T was present at -970, a C was …
Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease.
Lee PL, Gelbart T, West C, Halloran C, Sipe JC, Beutler E. Lee PL, et al. Among authors: west c. Mov Disord. 2002 Nov;17(6):1302-4. doi: 10.1002/mds.10253. Mov Disord. 2002. PMID: 12465072
HLA-H and associated proteins in patients with hemochromatosis.
Beutler E, West C, Gelbart T. Beutler E, et al. Among authors: west c. Mol Med. 1997 Jun;3(6):397-402. Mol Med. 1997. PMID: 9234244 Free PMC article.
A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin.
Lee PL, Gelbart T, West C, Halloran C, Felitti V, Beutler E. Lee PL, et al. Among authors: west c. Blood Cells Mol Dis. 2001 Sep-Oct;27(5):783-802. doi: 10.1006/bcmd.2001.0445. Blood Cells Mol Dis. 2001. PMID: 11783942
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