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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

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