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Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

(2009) HUMAN MUTATION. 30(2). p.E404-E420
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Keywords
FEATURES, allelic heterogeneity, differential gene expression, Cohen syndrome, GENE, LOCALIZATION, DELINEATION, PROTEINS, KEX2P, HETEROGENEITY, COH1, VPS13B

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Citation

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MLA
Seifert, Wenke et al. “Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1.” HUMAN MUTATION 30.2 (2009): E404–E420. Print.
APA
Seifert, W., Holder-Espinasse, M., Kühnisch, J., Kahrizi, K., Tzschach, A., Garshasbi, M., Najambadi, H., et al. (2009). Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. HUMAN MUTATION, 30(2), E404–E420.
Chicago author-date
Seifert, Wenke, Muriel Holder-Espinasse, Jirko Kühnisch, Kimia Kahrizi, Andreas Tzschach, Masoud Garshasbi, Hossein Najambadi, et al. 2009. “Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1.” Human Mutation 30 (2): E404–E420.
Chicago author-date (all authors)
Seifert, Wenke, Muriel Holder-Espinasse, Jirko Kühnisch, Kimia Kahrizi, Andreas Tzschach, Masoud Garshasbi, Hossein Najambadi, Andreas Walter Kuss, Wolfram Kress, Genevieve Laureys, Bart Loeys, Eva Brilstra, Grazia Mancini, Hélène Dollfus, Karin Dahan, Kira Apse, Hans Christian Hennies, and Denise Horn. 2009. “Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1.” Human Mutation 30 (2): E404–E420.
Vancouver
1.
Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, et al. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. HUMAN MUTATION. 2009;30(2):E404–E420.
IEEE
[1]
W. Seifert et al., “Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1,” HUMAN MUTATION, vol. 30, no. 2, pp. E404–E420, 2009.
@article{671955,
  author       = {Seifert, Wenke and Holder-Espinasse, Muriel and Kühnisch, Jirko and Kahrizi, Kimia and Tzschach, Andreas and Garshasbi, Masoud and Najambadi, Hossein and Walter Kuss, Andreas and Kress, Wolfram and Laureys, Genevieve and Loeys, Bart and Brilstra, Eva and Mancini, Grazia and Dollfus, Hélène and Dahan, Karin and Apse, Kira and Christian Hennies, Hans and Horn, Denise},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  keywords     = {FEATURES,allelic heterogeneity,differential gene expression,Cohen syndrome,GENE,LOCALIZATION,DELINEATION,PROTEINS,KEX2P,HETEROGENEITY,COH1,VPS13B},
  language     = {eng},
  number       = {2},
  pages        = {E404--E420},
  title        = {Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1},
  url          = {http://dx.doi.org/10.1002/humu.20886},
  volume       = {30},
  year         = {2009},
}

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