Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia
✍ Scribed by Jacob Mallott, Antonia Kwan, Joseph Church…
- Book ID
- 120691657
- Publisher
- Springer
- Year
- 2012
- Tongue
- English
- Weight
- 441 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0271-9142
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📜 SIMILAR VOLUMES
Communicated by Steve S. Sommer ATM has been identified as a gene that is responsible for ataxia telangiectasia (AT), a pleiotropic disorder of autosomal recessive inheritance. While many mutations of this gene in AT patients of various ethnicities have been reported, data on Japanese patients are s
A recent challenge for investigators studying the progressive neurological disease ataxia-telangiectasia (A-T) is to identify mutations whose effects might be alleviated by mutation-targeted therapies. We studied ATM mutations in eight families of Japanese A-T patients (JPAT) and were able to identi