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  2. Details for: Confirmation of mutations in
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Confirmation of mutations in [electronic resource]

By:
  • Plecko, Barbara
Contributor(s):
  • Zweier, Markus
  • Begemann, Anaïs
  • Mathis, Deborah
  • Schmitt, Bernhard
  • Striano, Pasquale
  • Baethmann, Martina
  • Vari, Maria Stella
  • Beccaria, Francesca
  • Zara, Federico
  • Crowther, Lisa M
  • Joset, Pascal
  • Sticht, Heinrich
  • Papuc, Sorina Mihaela
  • Rauch, Anita
Producer: 20180703Description: 809-814 p. digitalISSN:
  • 1468-6244
Subject(s):
  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Electroencephalography
  • Epilepsy -- diagnosis
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Proteins -- genetics
  • Pyridoxine -- therapeutic use
  • Vitamin B 6 -- blood
Online resources:
  • Available from publisher's website
In: Journal of medical genetics vol. 54
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Publication Type: Case Reports; Journal Article

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Confirmation of mutations in

APA

Plecko B., Zweier M., Begemann A., Mathis D., Schmitt B., Striano P., Baethmann M., Vari M. S., Beccaria F., Zara F., Crowther L. M., Joset P., Sticht H., Papuc S. M. & Rauch A. (20180703). Confirmation of mutations in. : Journal of medical genetics.

Chicago

Plecko Barbara, Zweier Markus, Begemann Anaïs, Mathis Deborah, Schmitt Bernhard, Striano Pasquale, Baethmann Martina, Vari Maria Stella, Beccaria Francesca, Zara Federico, Crowther Lisa M, Joset Pascal, Sticht Heinrich, Papuc Sorina Mihaela and Rauch Anita. 20180703. Confirmation of mutations in. : Journal of medical genetics.

Harvard

Plecko B., Zweier M., Begemann A., Mathis D., Schmitt B., Striano P., Baethmann M., Vari M. S., Beccaria F., Zara F., Crowther L. M., Joset P., Sticht H., Papuc S. M. and Rauch A. (20180703). Confirmation of mutations in. : Journal of medical genetics.

MLA

Plecko Barbara, Zweier Markus, Begemann Anaïs, Mathis Deborah, Schmitt Bernhard, Striano Pasquale, Baethmann Martina, Vari Maria Stella, Beccaria Francesca, Zara Federico, Crowther Lisa M, Joset Pascal, Sticht Heinrich, Papuc Sorina Mihaela and Rauch Anita. Confirmation of mutations in. : Journal of medical genetics. 20180703.

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