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SMA prenatal diagnosis: a modified protocol to help differentiation between deletions and gene conversion
K Kekou1, C Sofocleous1, G Konstantinidis1
1Department of Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
Molecular and Cellular Probes
|October 14, 2014
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.

