Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.

doi:10.1136/jmg.31.9.715

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Article

Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.

Journal of medical genetics - 1 Sept 1994

Hone J, Accili D, al-Gazali L I, Lestringant G, Orban T, Taylor S I

Abstract excerpt

Mutations in the insulin receptor gene can cause genetic syndromes such as leprechaunism that are associated with extreme insulin resistance. We have investigated a patient with leprechaunism born of a consanguineous marriage. All 22 exons of the insulin receptor gene were screened for mutations...

Topics

Exons
Female
Homozygote
Humans
Insulin Resistance
Isoleucine
Lod Score
Male
Methionine
Mutation
Pedigree
Receptor, Insulin

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