English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

Rademacher, N., Hambrock, M., Fischer, U., Moser, B., Ceulemans, B., Lieb, W., et al. (2011). Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics, 12(2), 165-7. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21318334 http://www.springerlink.com/content/p563ww7523712780/fulltext.pdf.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7967-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7968-F
Genre: Journal Article

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Rademacher, N.1, Author              
Hambrock, M.2, Author              
Fischer, U.2, Author              
Moser, B., Author
Ceulemans, B., Author
Lieb, W., Author
Boor, R., Author
Stefanova, I., Author
Gillessen-Kaesbach, G., Author
Runge, C., Author
Korenke, G. C., Author
Spranger, S., Author
Laccone, F., Author
Tzschach, A.1, Author              
Kalscheuer, V. M.2, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Chromosome 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              

Content

show
hide
Free keywords: Adult; Age of Onset; Amino Acid Sequence; Animals; Base Sequence; Cells, Cultured; Cohort Studies; DNA Mutational Analysis; Exons/genetics; Female; Humans; Intellectual Disability/complications/*genetics; Mice; Molecular Sequence Data; *Mutation, Missense/physiology; Phenotype; Protein-Serine-Threonine Kinases/*genetics; Rett Syndrome/complications/*genetics; Seizures/complications/epidemiology/*genetics; Severity of Illness Index
 Abstract: -

Details

show
hide
Language(s):
 Dates: 2011
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Neurogenetics
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 12 (2) Sequence Number: - Start / End Page: 165 - 7 Identifier: ISSN: 1364-6753 (Electronic) 1364-6745 (Linking)