Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

Abstract Text

Proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations of the SMN1 gene. The most frequent mutation is biallelic deletion of exon 7 of the SMN1 gene. A small percentage of SMA patients present compound heterozygosity with a point mutation on one allele and deletion on the other. In the remaining cases the disease is unlikely to be related to SMN1 defects. The aim of our study was to estimate the frequency of the common biallelic exon 7 SMN1 deletion in our Polish SMA cohort and implement a test for assessing a molecular defect at the SMN1 locus versus defects in the other genes.

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2016-09-03 22:09:12

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Citation:- Jedrzejowska M, Wiszniewski M, Zimowski M, Kostera-Pruszczyk M, Ryniewicz M, Bal M, .Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA). Neurologia i neurochirurgia polska -;39()89-94 DOI:



Details of Journal

Journal Title - Neurologia i neurochirurgia polska

ISSN - 0028-3843

Volume - 39

Issue - 2

Publish date - -

Language - eng

Country - Poland


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