In patients affected by Ataxia-Telangiectasia (A-T), mutations in the ATM gene lead to lossof-function alleles. Nonsense, splice-site variants, small insertions or deletions (frameshifts) and missense are the most commonly found mutations. Large genomic deletions (LGDs) are rare (~1%) but can lead t
β¦ LIBER β¦
Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family
β Scribed by W Wooderchak; F Gedge; M McDonald; P Krautscheid; X Wang; J Malkiewicz; CJ Bukjiok; T Lewis; P Bayrak-Toydemir
- Book ID
- 110889026
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 687 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0009-9163
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