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AKR1B1
103880


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Mutations


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Sprache
wechseln

ALDOSE REDUCTASE

Scientific background:

Summary: This gene is intensly researched into its contribution to diabetic complications. Several genetic variations have been associated with diabetic nephropathy.

Methodology:

 

research
test
Method Hotspot sequencing
Turn-around time 25 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  Only in the region of interest, known and new missense, nonsense and splice mutations can be detected.

Systematic link table: 

Diabetic nephropathy
ACE
AGT
AKR1B1

Literature: 

Graham A et al. (1991) Structure of the human aldose reductase gene.
Shah VO et al. (1997) Aldose reductase gene expression is increased in diabetic nephropathy.
Wolford JK et al. (2006) Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians.