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Molecular pathology of ataxia telangiectasia

Ataxia telangiectasia (A-T) is one of a group of autosomal recessive cerebellar ataxias. Presentation is usually by the age of 2 years and ataxia of both upper and lower limbs develops, such that by early teenage most patients require a wheelchair for mobility. Speech and eye movement are also affec...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Taylor, A M R, Byrd, P J
Format: Artigo
Sprache:Inglês
Veröffentlicht: Copyright 2005 Journal of Clinical Pathology 2005
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1770730/
https://ncbi.nlm.nih.gov/pubmed/16189143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jcp.2005.026062
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