Molecular analysis of the promoter and the core promoter region Of the smn2 gene in circumscribing the clinical severity of sma

• Main Author: Baig, Atif Amin
• Format: Thesis
• Language: English
• Published: 2012
• Subjects: R Medicine (General); RA0421 Public health. Hygiene. Preventive Medicine; RA440-440.87 Study and teaching. Research
• Online Access: http://eprints.usm.my/60940/1/ATIF%20AMIN%20BAIG%20-%20e.pdf; http://eprints.usm.my/60940/
• Institution: Universiti Sains Malaysia

Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by the absence of the full length SMN protein (FL-SMN) as a result of mutation or deletion of SMN\ gene. The isoform to this gene, SMN2, with mutation in 1 base pair, encodes for 10% of FL-SMN protein and is reported to decrease...