Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

doi:10.1210/jcem.82.2.3725

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Article

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

The Journal of clinical endocrinology and metabolism - 1 Feb 1997

Sobrier M L, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S

Abstract excerpt

The GH receptor (GHR) is a member of the cytokine receptor superfamily; GH binding protein is the solubilized extracellular domain of the GHR. Abnormalities in the GHR produce an autosomal recessive form of GH resistance, the Laron syndrome, characterized by growth failure and the clinical appear...

Topics

Base Sequence
Drug Resistance
Exons
Genes
Human Growth Hormone
Humans
Mutation
Receptors, Somatotropin
Syndrome

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