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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

Fig. 1

The figure shows schematic representation of the DNA sequences from the joining parts of the first and third exons. If this is the case, then AG nucleotides from the first exon and the G from the third exon will join together. [The orange arrows show the expected joining between exon1 and 3, which leads to a frameshift and a truncated protein. Lowercase red letters indicates the deleted part. The upper letters in black color show the intronic regions and upper letters in yellow and blue boxes show the exonic regions. Blue arrows show the start and the end of the deleted part. The green arrow indicates the first nucleotide at the beginning part of the second exon]

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172