Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
Smahi, Asmae ; Courtois, G. ; Vabres, P. ; Yamaoka, S. ; Heuertz, S. ; Munnich, A. ; Israël, A. ; Heiss, Nina S. ; Klauck, S. M. ; Kioschis, P. ; Wiemann, S. ; Poustka, A. ; Esposito, Teresa ; Bardaro, T. ; Gianfrancesco, F. ; Ciccodicola, A. ; D'Urso, M. ; Woffendin, Hayley ; Jakins, T. ; Donnai, D. ; Stewart, H. ; Aradhya, Swaroop ; Yamagata, T. ; Levy, M. ; Lewis, R. A.
[s.l.] : Macmillian Magazines Ltd.
Published 2000
[s.l.] : Macmillian Magazines Ltd.
Published 2000
| ISSN: |
1476-4687
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|---|---|
| Source: |
Nature Archives 1869 - 2009
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| Topics: |
Biology
Chemistry and Pharmacology
Medicine
Natural Sciences in General
Physics
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| Notes: |
[Auszug] Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. The ...
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| Type of Medium: |
Electronic Resource
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| URL: |