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  CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

Córdova-Fletes, C., Rademacher, N., Müller, I., Mundo-Ayala, J. N., Morales-Jeanhs, E. A., García-Ortiz, J. E., et al. (2010). CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. Clinical Genetics, 77(1), 92-96. doi:10.1111/j.1399-0004.2009.01286.x.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7C27-9 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7C28-7
Genre: Journal Article
Alternative Title : Clin Genet

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j.1399-0004.2009.01286.x.pdf (Any fulltext), 800KB
 
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 Creators:
Córdova-Fletes, C., Author
Rademacher, N.1, Author           
Müller, I.2, Author           
Mundo-Ayala, J. N., Author
Morales-Jeanhs, E. A., Author
García-Ortiz, J. E., Author
León-Gil, A., Author
Rivera, H., Author
Domínguez, M. G., Author
Kalscheuer, V. M.3, Author           
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Language(s): eng - English
 Dates: 2010-01-01
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 469307
DOI: 10.1111/j.1399-0004.2009.01286.x
URI: http://www3.interscience.wiley.com/cgi-bin/fulltext/122617184/PDFSTART
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Title: Clinical Genetics
  Alternative Title : Clin Genet
Source Genre: Journal
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Pages: - Volume / Issue: 77 (1) Sequence Number: - Start / End Page: 92 - 96 Identifier: ISSN: 0009-9163