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  • Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

Gene (2013-02-14)
Cinthia Amiñoso, Elena Vallespin, Luís Fernández, Luisa F Arrabal, Lourdes R Desviat, Belen Pérez, Fernando Santos, Jesús Solera
要旨

Pompe disease is an uncommon autosomal recessive glycogen storage disorder caused by deficiency of acid α-glucosidase. Classic infantile form triggers severe cardiomyopathy, hypotonia, and respiratory failure, leading to death within the first two years of life. The majority of patients with Pompe disease have been reported to have point mutations in the GAA gene. We report the first complex deletion-insertion encompassing the complete structure of GAA gene and a large fragment of the gene CCDC40 in a patient with very severe form of Pompe disease. Sequencing analysis of breakpoints allowed us to determine the potential implication of an Alu repeat in the pathogenic mechanism. We suggest that molecular strategy of Pompe disease should include systematic analysis of large rearrangements.

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製品内容

Sigma-Aldrich
アミログルコシダーゼ from Aspergillus niger, lyophilized powder, 30-60 units/mg protein (biuret), ≤0.02% glucose
Sigma-Aldrich
アミログルコシダーゼ from Aspergillus niger, lyophilized, powder, ~70 U/mg
Sigma-Aldrich
アミログルコシダーゼ from Aspergillus niger, powder, white, ~120 U/mg
Sigma-Aldrich
アミログルコシダーゼ from Aspergillus niger, ammonium sulfate suspension, ≥40 units/mg protein
Sigma-Aldrich
アミログルコシダーゼ from Aspergillus niger, ≥260 U/mL, aqueous solution
Sigma-Aldrich
アミログルコシダーゼ from Aspergillus niger, Isoelectric focusing marker, pI 3.6
Sigma-Aldrich
α-グルコシダーゼ from Saccharomyces cerevisiae, Type I, lyophilized powder, ≥10 units/mg protein (using p-nitrophenyl α-D-glucoside as substrate.)
Sigma-Aldrich
α-グルコシダーゼ from Saccharomyces cerevisiae, recombinant, expressed in proprietary host, lyophilized powder, ≥100 units/mg protein
Sigma-Aldrich
アミログルコシダーゼ from Rhizopus sp., ≥40,000 units/g solid
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α-グルコシダーゼ Bacillus stearothermophilus由来, lyophilized powder, ≥50 units/mg protein
Sigma-Aldrich
α-グルコシダーゼ イネ由来, Type V, ammonium sulfate suspension, 40-80 units/mg protein