Communicated by Mark H. Paalman L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cel
Splicing aberrations caused by constitutionalRB1gene mutations in retinoblastoma
β Scribed by Vidya Latha Parsam; Mohammed Javed Ali; Santosh G Honavar; Geeta K Vemuganti; Chitra Kannabiran
- Book ID
- 107584268
- Publisher
- Indian Academy of Sciences
- Year
- 2011
- Tongue
- English
- Weight
- 395 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0250-5991
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Introduction: Familial dilated cardiomyopathy with conduction system defects variably associated with skeletal muscle abnormalities is frequently caused by LMNA gene mutations. Methods: A family affected by cardiac abnormalities, either isolated or variably associated with skeletal muscle compromise
## Communicated by Arupa Ganguly We have analyzed RNA from retinoblastoma patients and unaffected carriers with various RB1 gene mutations to determine the patterns of missplicing and associations with phenotypic expression. Most sequence alterations in or in the neighborhood of conserved splice s