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Academic Journal

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

  • Authors : Abdollahpour H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Alawi M

Subjects: Frameshift Mutation*; Adaptor Protein Complex 4/Adaptor Protein Complex 4/Adaptor Protein Complex 4/*genetics ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Feb; Vol. 23 (2), pp. 256-9. Date of Electronic Publication: 2014 Apr 30.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-6 of  6 results for ""Komarek, Vladimir""