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  2. Details for: Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. [electronic resource]

By:
  • Mortreux, J
Contributor(s):
  • Bacquet, J
  • Boyer, A
  • Alazard, E
  • Bellance, R
  • Giguet-Valard, A G
  • Cerino, M
  • Krahn, M
  • Audic, F
  • Chabrol, B
  • Laugel, V
  • Desvignes, J P
  • Béroud, C
  • Nguyen, K
  • Verschueren, A
  • Lévy, N
  • Attarian, S
  • Delague, V
  • Missirian, C
  • Bonello-Palot, N
Producer: 20201009Description: 313-323 p. digitalISSN:
  • 1435-232X
Subject(s):
  • Adolescent
  • Adult
  • Charcot-Marie-Tooth Disease -- genetics
  • Child
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Cytoskeletal Proteins -- genetics
  • DNA Copy Number Variations -- genetics
  • Exome -- genetics
  • Female
  • Genetic Predisposition to Disease -- genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Microfilament Proteins -- genetics
  • Middle Aged
  • Mutation -- genetics
  • Nerve Tissue Proteins -- genetics
  • Phenotype
  • Ubiquitin-Protein Ligases -- genetics
  • Exome Sequencing
  • Young Adult
Online resources:
  • Available from publisher's website
In: Journal of human genetics vol. 65
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Publication Type: Journal Article

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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.

APA

Mortreux J., Bacquet J., Boyer A., Alazard E., Bellance R., Giguet-Valard A. G., Cerino M., Krahn M., Audic F., Chabrol B., Laugel V., Desvignes J. P., Béroud C., Nguyen K., Verschueren A., Lévy N., Attarian S., Delague V., Missirian C. & Bonello-Palot N. (20201009). Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. : Journal of human genetics.

Chicago

Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard A G, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes J P, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C and Bonello-Palot N. 20201009. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. : Journal of human genetics.

Harvard

Mortreux J., Bacquet J., Boyer A., Alazard E., Bellance R., Giguet-Valard A. G., Cerino M., Krahn M., Audic F., Chabrol B., Laugel V., Desvignes J. P., Béroud C., Nguyen K., Verschueren A., Lévy N., Attarian S., Delague V., Missirian C. and Bonello-Palot N. (20201009). Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. : Journal of human genetics.

MLA

Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard A G, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes J P, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C and Bonello-Palot N. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. : Journal of human genetics. 20201009.

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