Article
Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Dec 1994
van der Vorm E R, Maassen J A
Abstract excerpt
Leprechaunism is a syndrome of severe insulin resistance. In general, mutations in both alleles of the insulin receptor are required for developing the leprechaun phenotype. Recently, we described a leprechaun patient having an Arg for Gly substitution in one allele of the insulin receptor whereas the other allele has the normal sequence. To explain the leprechaun phenotype, we searched for additional defects at...
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