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  2. Details for: Genome sequencing reveals a deep intronic splicing
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Genome sequencing reveals a deep intronic splicing [electronic resource]

By:
  • Wooderchak-Donahue, Whitney L
Contributor(s):
  • McDonald, Jamie
  • Farrell, Andrew
  • Akay, Gulsen
  • Velinder, Matt
  • Johnson, Peter
  • VanSant-Webb, Chad
  • Margraf, Rebecca
  • Briggs, Eric
  • Whitehead, Kevin J
  • Thomson, Jennifer
  • Lin, Angela E
  • Pyeritz, Reed E
  • Marth, Gabor
  • Bayrak-Toydemir, Pinar
Producer: 20191114Description: 824-830 p. digitalISSN:
  • 1468-6244
Subject(s):
  • Activin Receptors, Type II -- genetics
  • Base Sequence
  • Case-Control Studies
  • Chromosome Mapping
  • Computational Biology -- methods
  • Female
  • Genetic Association Studies -- methods
  • Genetic Predisposition to Disease
  • Genomics -- methods
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Introns
  • Male
  • Multigene Family
  • Mutation
  • Pedigree
  • RNA Splicing
  • RNA, Untranslated
  • Sequence Analysis, DNA
  • Telangiectasia, Hereditary Hemorrhagic -- diagnosis
  • Translocation, Genetic
Online resources:
  • Available from publisher's website
In: Journal of medical genetics vol. 55
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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Genome sequencing reveals a deep intronic splicing

APA

Wooderchak-Donahue W. L., McDonald J., Farrell A., Akay G., Velinder M., Johnson P., VanSant-Webb C., Margraf R., Briggs E., Whitehead K. J., Thomson J., Lin A. E., Pyeritz R. E., Marth G. & Bayrak-Toydemir P. (20191114). Genome sequencing reveals a deep intronic splicing. : Journal of medical genetics.

Chicago

Wooderchak-Donahue Whitney L, McDonald Jamie, Farrell Andrew, Akay Gulsen, Velinder Matt, Johnson Peter, VanSant-Webb Chad, Margraf Rebecca, Briggs Eric, Whitehead Kevin J, Thomson Jennifer, Lin Angela E, Pyeritz Reed E, Marth Gabor and Bayrak-Toydemir Pinar. 20191114. Genome sequencing reveals a deep intronic splicing. : Journal of medical genetics.

Harvard

Wooderchak-Donahue W. L., McDonald J., Farrell A., Akay G., Velinder M., Johnson P., VanSant-Webb C., Margraf R., Briggs E., Whitehead K. J., Thomson J., Lin A. E., Pyeritz R. E., Marth G. and Bayrak-Toydemir P. (20191114). Genome sequencing reveals a deep intronic splicing. : Journal of medical genetics.

MLA

Wooderchak-Donahue Whitney L, McDonald Jamie, Farrell Andrew, Akay Gulsen, Velinder Matt, Johnson Peter, VanSant-Webb Chad, Margraf Rebecca, Briggs Eric, Whitehead Kevin J, Thomson Jennifer, Lin Angela E, Pyeritz Reed E, Marth Gabor and Bayrak-Toydemir Pinar. Genome sequencing reveals a deep intronic splicing. : Journal of medical genetics. 20191114.

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