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Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.

Publication ,  Journal Article
McAllister, KA; Baldwin, MA; Thukkani, AK; Gallione, CJ; Berg, JN; Porteous, ME; Guttmacher, AE; Marchuk, DA
Published in: Hum Mol Genet
October 1995

Duke Scholars

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

October 1995

Volume

4

Issue

10

Start / End Page

1983 / 1985

Location

England

Related Subject Headings

  • Vascular Cell Adhesion Molecule-1
  • Telangiectasia, Hereditary Hemorrhagic
  • Sequence Deletion
  • Restriction Mapping
  • Receptors, Cell Surface
  • Polymerase Chain Reaction
  • Point Mutation
  • Pedigree
  • Mutation
  • Molecular Sequence Data
 

Citation

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McAllister, K. A., Baldwin, M. A., Thukkani, A. K., Gallione, C. J., Berg, J. N., Porteous, M. E., … Marchuk, D. A. (1995). Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum Mol Genet, 4(10), 1983–1985. https://doi.org/10.1093/hmg/4.10.1983
McAllister, K. A., M. A. Baldwin, A. K. Thukkani, C. J. Gallione, J. N. Berg, M. E. Porteous, A. E. Guttmacher, and D. A. Marchuk. “Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.Hum Mol Genet 4, no. 10 (October 1995): 1983–85. https://doi.org/10.1093/hmg/4.10.1983.
McAllister KA, Baldwin MA, Thukkani AK, Gallione CJ, Berg JN, Porteous ME, et al. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum Mol Genet. 1995 Oct;4(10):1983–5.
McAllister, K. A., et al. “Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.Hum Mol Genet, vol. 4, no. 10, Oct. 1995, pp. 1983–85. Pubmed, doi:10.1093/hmg/4.10.1983.
McAllister KA, Baldwin MA, Thukkani AK, Gallione CJ, Berg JN, Porteous ME, Guttmacher AE, Marchuk DA. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum Mol Genet. 1995 Oct;4(10):1983–1985.
Journal cover image

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

October 1995

Volume

4

Issue

10

Start / End Page

1983 / 1985

Location

England

Related Subject Headings

  • Vascular Cell Adhesion Molecule-1
  • Telangiectasia, Hereditary Hemorrhagic
  • Sequence Deletion
  • Restriction Mapping
  • Receptors, Cell Surface
  • Polymerase Chain Reaction
  • Point Mutation
  • Pedigree
  • Mutation
  • Molecular Sequence Data