## How Fancbni anemia (FA) is a rare autosomal recessive disease characterized by diverse clinical symptoms, chromosomal instability, and hypersensitivity
Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy
✍ Scribed by Prof. Maria Antonietta Melis; Francesco Muntoni; Milena Cau; Daniela Loi; Alberto Puddu; Loredana Boccone; Anna Mateddu; Carlo Cianchetti; Antonio Cao
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 172 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Communicated by F a d E Chehab
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