Lataa...
Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to...
Tallennettuna:
| Päätekijät: | , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
The Korean Society for Laboratory Medicine
2013
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3646200/ https://ncbi.nlm.nih.gov/pubmed/23667852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2013.33.3.217 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|