| Literature DB >> 25308401 |
K Kekou1, C Sofocleous2, G Konstantinidis2, H Fryssira2, A Mavrou2, S Kitsiou2, E Kanavakis2.
Abstract
In SMA, unusual findings such as deletions restricted only to SMN1 exon 8, inspite of honozygous SMN1 exons 7-8 deletions in the family, may obscure final diagnosis. Application of a modified PCR procedure allowed discrimination between a deletion or a gene conversion event in a case of prenatal diagnosis.Entities:
Keywords: Gene conversion; Prenatal; SMA; SMN1; SMN2
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Year: 2014 PMID： 25308401 DOI： 10.1016/j.mcp.2014.10.001
Source DB: PubMed Journal: Mol Cell Probes ISSN： 0890-8508 Impact factor: 2.365