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  2. Details for: Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
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Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. [electronic resource]

By:
  • Lesca, Gaetan
Contributor(s):
  • Boutry-Kryza, Nadia
  • de Toffol, Bertrand
  • Milh, Mathieu
  • Steschenko, Dominique
  • Lemesle-Martin, Martine
  • Maillard, Louis
  • Foletti, Giovanni
  • Rudolf, Gabrielle
  • Nielsen, Jørgen Erik
  • á Rogvi-Hansen, Bjarke
  • Erdal, Jesper
  • Mancini, Josette
  • Thauvin-Robinet, Christel
  • M'Rrabet, Amel
  • Ville, Dorothée
  • Szepetowski, Pierre
  • Raffo, Emmanuel
  • Hirsch, Edouard
  • Ryvlin, Philippe
  • Calender, Alain
  • Genton, Pierre
Producer: 20101015Description: 1691-8 p. digitalISSN:
  • 1528-1167
Subject(s):
  • Adolescent
  • Adult
  • Biopsy
  • Carrier Proteins -- genetics
  • Exons -- genetics
  • Female
  • Genetic Markers -- genetics
  • Humans
  • Lafora Disease -- diagnosis
  • Male
  • Microsatellite Repeats -- genetics
  • Mutation -- genetics
  • Pedigree
  • Protein Tyrosine Phosphatases, Non-Receptor -- genetics
  • Skin -- pathology
  • Ubiquitin-Protein Ligases
Online resources:
  • Available from publisher's website
In: Epilepsia vol. 51
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Publication Type: Comparative Study; Journal Article

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Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.

APA

Lesca G., Boutry-Kryza N., de Toffol B., Milh M., Steschenko D., Lemesle-Martin M., Maillard L., Foletti G., Rudolf G., Nielsen J. E., á Rogvi-Hansen B., Erdal J., Mancini J., Thauvin-Robinet C., M'Rrabet A., Ville D., Szepetowski P., Raffo E., Hirsch E., Ryvlin P., Calender A. & Genton P. (20101015). Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. : Epilepsia.

Chicago

Lesca Gaetan, Boutry-Kryza Nadia, de Toffol Bertrand, Milh Mathieu, Steschenko Dominique, Lemesle-Martin Martine, Maillard Louis, Foletti Giovanni, Rudolf Gabrielle, Nielsen Jørgen Erik, á Rogvi-Hansen Bjarke, Erdal Jesper, Mancini Josette, Thauvin-Robinet Christel, M'Rrabet Amel, Ville Dorothée, Szepetowski Pierre, Raffo Emmanuel, Hirsch Edouard, Ryvlin Philippe, Calender Alain and Genton Pierre. 20101015. Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. : Epilepsia.

Harvard

Lesca G., Boutry-Kryza N., de Toffol B., Milh M., Steschenko D., Lemesle-Martin M., Maillard L., Foletti G., Rudolf G., Nielsen J. E., á Rogvi-Hansen B., Erdal J., Mancini J., Thauvin-Robinet C., M'Rrabet A., Ville D., Szepetowski P., Raffo E., Hirsch E., Ryvlin P., Calender A. and Genton P. (20101015). Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. : Epilepsia.

MLA

Lesca Gaetan, Boutry-Kryza Nadia, de Toffol Bertrand, Milh Mathieu, Steschenko Dominique, Lemesle-Martin Martine, Maillard Louis, Foletti Giovanni, Rudolf Gabrielle, Nielsen Jørgen Erik, á Rogvi-Hansen Bjarke, Erdal Jesper, Mancini Josette, Thauvin-Robinet Christel, M'Rrabet Amel, Ville Dorothée, Szepetowski Pierre, Raffo Emmanuel, Hirsch Edouard, Ryvlin Philippe, Calender Alain and Genton Pierre. Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. : Epilepsia. 20101015.

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