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Article

Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene.

The Journal of clinical endocrinology and metabolism - 1 Jan 1995

Desbois-Mouthon C, Magré J, Amselem S, Reynet C, Blivet M J, Goossens M, Capeau J, Besmond C

Abstract excerpt

Lipoatrophic diabetes (LD) is a syndrome with congenital or delayed onset, characterized by severe insulin resistance and generalized lipoatrophy. Using denaturing gradient gel electrophoresis and sequencing, we have investigated the contribution of defects in the insulin receptor (IR) gene in LD. First, we performed an association study between the IR gene and congenital lipoatrophy in two families with...

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PMID: 7829633
DOI: 10.1210/jcem.80.1.7829633

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