Novel ATM mutations with ataxia-telangiectasia.

doi:10.1016/j.neulet.2015.11.036

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Novel ATM mutations with ataxia-telangiectasia.

Neuroscience letters - 12 Jan 2016

Liu Xiao-Li, Wang Tian, Huang Xiao-Jun, Zhou Hai-Yan, Luan Xing-Hua, Shen Jun-Yi, Chen Sheng-Di, Cao Li

Abstract excerpt

Ataxia telangiectasia is an autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous telangiectasia, increased serum alpha-fetoprotein, immunodeficiency, chromosomal instability, and radiation hypersensitivity. Ataxia-telangiectasia mutated gene (ATM) is one of the known genes to be associated with ataxia telangiectasia. We reported the...

Topics

Adolescent
Adult
Ataxia Telangiectasia
Ataxia Telangiectasia Mutated Proteins
Female
Humans
Male
Mutation
Pedigree

Source

Open in PubMed

Identifiers

PMID: 26628246
DOI: 10.1016/j.neulet.2015.11.036

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics