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This figure compares the RNA <t>sequencing</t> of the <t>GAA</t> gene results of a normal control and a patient sample.In the normal RNA sequencing data, the alignment tracks show expected splicing patterns. In the patient RNA sequencing data, exon 8 is abnormally contiguous with the adjacent intron, indicating alternative 5′ splice site . This defect suggests a failure in the splicing machinery to remove the intron between Exon 8 and Exon 9.
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This figure compares the RNA <t>sequencing</t> of the <t>GAA</t> gene results of a normal control and a patient sample.In the normal RNA sequencing data, the alignment tracks show expected splicing patterns. In the patient RNA sequencing data, exon 8 is abnormally contiguous with the adjacent intron, indicating alternative 5′ splice site . This defect suggests a failure in the splicing machinery to remove the intron between Exon 8 and Exon 9.
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This figure compares the RNA <t>sequencing</t> of the <t>GAA</t> gene results of a normal control and a patient sample.In the normal RNA sequencing data, the alignment tracks show expected splicing patterns. In the patient RNA sequencing data, exon 8 is abnormally contiguous with the adjacent intron, indicating alternative 5′ splice site . This defect suggests a failure in the splicing machinery to remove the intron between Exon 8 and Exon 9.
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This figure compares the RNA <t>sequencing</t> of the <t>GAA</t> gene results of a normal control and a patient sample.In the normal RNA sequencing data, the alignment tracks show expected splicing patterns. In the patient RNA sequencing data, exon 8 is abnormally contiguous with the adjacent intron, indicating alternative 5′ splice site . This defect suggests a failure in the splicing machinery to remove the intron between Exon 8 and Exon 9.
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This figure compares the RNA <t>sequencing</t> of the <t>GAA</t> gene results of a normal control and a patient sample.In the normal RNA sequencing data, the alignment tracks show expected splicing patterns. In the patient RNA sequencing data, exon 8 is abnormally contiguous with the adjacent intron, indicating alternative 5′ splice site . This defect suggests a failure in the splicing machinery to remove the intron between Exon 8 and Exon 9.
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This figure compares the RNA sequencing of the GAA gene results of a normal control and a patient sample.In the normal RNA sequencing data, the alignment tracks show expected splicing patterns. In the patient RNA sequencing data, exon 8 is abnormally contiguous with the adjacent intron, indicating alternative 5′ splice site . This defect suggests a failure in the splicing machinery to remove the intron between Exon 8 and Exon 9.

Journal: Molecular Genetics and Metabolism Reports

Article Title: Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases

doi: 10.1016/j.ymgmr.2026.101307

Figure Lengend Snippet: This figure compares the RNA sequencing of the GAA gene results of a normal control and a patient sample.In the normal RNA sequencing data, the alignment tracks show expected splicing patterns. In the patient RNA sequencing data, exon 8 is abnormally contiguous with the adjacent intron, indicating alternative 5′ splice site . This defect suggests a failure in the splicing machinery to remove the intron between Exon 8 and Exon 9.

Article Snippet: GAA whole gene was amplified using the GAA Whole Gene Sequencing Kit (Multigen, Izmir, Turkey).

Techniques: RNA Sequencing, Control

Upper row represents GAA Whole Gene Sequencing Test, while bottom row shows the standard exonic GAA analysis.

Journal: Molecular Genetics and Metabolism Reports

Article Title: Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases

doi: 10.1016/j.ymgmr.2026.101307

Figure Lengend Snippet: Upper row represents GAA Whole Gene Sequencing Test, while bottom row shows the standard exonic GAA analysis.

Article Snippet: GAA whole gene was amplified using the GAA Whole Gene Sequencing Kit (Multigen, Izmir, Turkey).

Techniques: Sequencing