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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

Fig. 1

Characterization of a common long-range deletion of the FBP1 gene. A junction fragment including a deletion in the range of exon 2 was generated from DNA of patient 1. The result of the sequencing reaction is shown. The novel deletion (indicated in red) comprises 26 bp of intron 1, another 24 bp of the untranslated region (5′-UTR) before the ATG initiation codon of exon 2, the entire coding region of 170 bp of exon 2 (blue), and another 5192 bp of intron 2. The bold black lines (indicated by the asterisks) describe the position of the MLPA probes for exon 2 used in this study

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172