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Article

Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

Journal of the neurological sciences - 15 May 2014

Hasegawa Setsuko, Imai Kohsuke, Yoshida Kenichi, Okuno Yusuke, Muramatsu Hideki, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Kojima Seiji, Ogawa Seishi, Morio Tomohiro, Mizutani Shuki, Takagi Masatoshi

Abstract excerpt

A number of diseases exhibit neurodegeneration with/without additional symptoms such as immunodeficiency, increased cancer risk, and microcephalus. Ataxia telangiectasia and Nijmegen breakage syndrome, for example, develop as a result of mutations in genes involved in the DNA damage response. However, such diseases can be difficult to diagnose as they are only rarely encountered by physicians. To overcome this...

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Identifiers

PMID: 24631270
DOI: 10.1016/j.jns.2014.02.033

Genes

SIL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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