Title: Determination of exon 7 SMN1 deletion in Iranian patients and heterozygous carriers by quantitative real-time PCR.
Authors: Akbari, Mohammad; Noruzinia, Mehrdad; Mozdarani, Hossein; Hamid, Mohammad
Abstract: The article presents a study which aims to determine the deletion for exon 7 survival motor neuron (SMN1) gene in Iranian patients with spinal muscular atrophy (SMA). The study used quantitative real-time polymerase chain reaction (PCR) to examine the SMA carriers in Iran. Results show that 52 patients were recognized as carriers, 26 patients were found to be normal for exon 7 deletions, and 15 patients were distinguished as homozygous for exon 7 deletion.
Subjects: IRAN; MOTOR neurons; EXONS (Genetics); DIAGNOSTIC use of polymerase chain reaction; SPINAL muscular atrophy; GENETIC carriers; GENETICS
Publication: Journal of Genetics, 2011, Vol 90, Issue 1, p133
ISSN: 0022-1333
Publication type: Academic Journal
DOI: 10.1007/s12041-011-0038-1

Determination of exon 7 SMN1 deletion in Iranian patients and heterozygous carriers by quantitative real-time PCR.

Akbari, Mohammad; Noruzinia, Mehrdad; Mozdarani, Hossein; Hamid, Mohammad