Identifier |
wh_ch47_2533-2535 |
Title |
Walsh & Hoyt: Ataxia Telangiectasia (Ch. 47) |
Creator |
Parashkev Nachev, PhD, MRCP(UK); Christopher Kennard, PhD, FRCP, FMed Sci |
Affiliation |
(PN) University College London; (CK) University of Oxford |
Subject |
Ataxia Telangiectasia |
Description |
Ataxia telangiectasia (AT) belongs to a group of inherited conditions, known as the genomic instability syndromes, that are characterized by vulnerability to genetic damage. It is an autosomal-recessive disorder caused by mutations in the gene encoding ATM, a phosphatidylinositol kinase that is central in orchestrating the cellular response to damaged DNA. Although the clinical features normally become manifest in childhood, cases with a more benign course can be identified in adults (239). It is now recognized that some of these patients carry a genetic defect in another gene involved in genomic maintenance, Mre11, and their condition is designated as AT-like disorder (ATLD) (240). |
Date |
2005 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
Walsh and Hoyt's Clinical Neuro-Ophthalmology, 6th Edition |
Relation is Part of |
Walsh and Hoyt's Clinical Neuro-Ophthalmology Walsh and Hoyt's Clinical Neuro-Ophthalmology |
Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
Publisher |
Wolters Kluwer Health, Philadelphia |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890 |
Rights Management |
Copyright 2005. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6jt302s |
Setname |
ehsl_novel_whts |
ID |
187419 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6jt302s |