Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation

15Citations
Citations of this article
9Readers
Mendeley users who have this article in their library.
Get full text

Abstract

Two Swedish brothers 2.5 and 4 years of age, were found to fulfil all the clinical and laboratory characteristics of Laron's syndrome. They were shown to have unique missense mutations in the GH receptor gene. Both of their parents were of normal height, but they both separately carried one of the identified gene alterations. A molecular model of the first receptor alteration suggests that a collapse in three-dimensional receptor structure most likely contributed to the GH insensitivity in these patients.

Cite

CITATION STYLE

APA

Enberg, B., Luthman, H., Segnestam, K., Ritzén, E. M., Sundström, M., & Norstedt, G. (2000). Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation. European Journal of Endocrinology, 143(1), 71–76. https://doi.org/10.1530/eje.0.1430071

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free