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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Fig. 2

Aberrant splicing products detected in Morquio A patients in the heterozygous state. The alternative GALNS cDNA (RT-PCR) products were detected in samples from: a Pt3; b, c Mother of Pt3; d Pt3 and his father; e Pt2; f Pt1. Ten normal controls were included alongside the three patients in the mRNA analyses in order to compare the GALNS cDNA amplification products. The control group did not show any aberrant transcripts. Del, deletion; ins, insertion; trunc, truncated; ex, exon

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