Retinoblastoma is the most common primary intraocular malignancy in children, caused by inactivation of the RB1 gene on chromosome 13. We carried out a mutational screen of the exons and promoter of the RB1 gene in Indian patients with retinoblastoma in order to determine the range of mutations givi
Mutational screening of theRB1gene in Italian patients with retinoblastoma reveals 11 novel mutations
β Scribed by Katia Sampieri; Theodora Hadjistilianou; Francesca Mari; Caterina Speciale; Maria Antonietta Mencarelli; Francesco Cetta; Siranoush Manoukian; Bernard Peissel; Daniela Giachino; Barbara Pasini; Antonio Acquaviva; Aldo Caporossi; Renato Frezzotti; Alessandra Renieri; Mirella Bruttini
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 276 KB
- Volume
- 51
- Category
- Article
- ISSN
- 1435-232X
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Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr
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