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Fructose-1,6-Bisphosphatase Deficiency |
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Disease Name (Synonym)
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Disease OMIM
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Inheritance
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Gene
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Gene OMIM
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Locus
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Protein
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- Fructose-1,6 Bisphosphatase Deficiency
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229700
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Autosomal Recessive
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FBP1
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611570
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9q22.32
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Fructose-1,6 Bisphosphatase 1
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DNA
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CDS
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Exon
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36.51 kb
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1017 bp
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7
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Sample
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Volume
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Tube
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Transport
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Unacceptable Conditions
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Remarks
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BloodEDTA
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5 ml
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Lavender-top
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18-24 C0
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Frozen, hemolyzed specimens
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The sample should be send with written consent of the patient.
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Last Updated on Friday, 29 April 2011 16:31 |