Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 1998 Dec;5(4):287-94.
doi: 10.1016/s1071-9091(98)80007-7.

Ataxia telangiectasia

T O Crawford  1
Affiliations
Free article
Review

Ataxia telangiectasia

T O Crawford. Semin Pediatr Neurol. 1998 Dec.
Free article

Abstract

The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variable and stereotyped, with significant differences between patients in the rate of progression or appearance of the multiple features yet consistent in their characteristic nature. Ataxia telangiectasia usually has been misdiagnosed for the first few years of life, while accurate diagnosis might most impact family planning. Newly produced ATM-deficient transgenic mice express most of the cellular features of the disorder but have yet to mimic the distinctive neurodegeneration.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Substances

-