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Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.

Laron-type dwarfism is an autosomal recessive genetic disorder that is characterized by high levels of growth hormone and low levels of insulin-like growth factor I in the circulation. Several lines of evidence suggest that this disease is caused by a defect in the growth hormone receptor. In order...

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Veröffentlicht in:Proc Natl Acad Sci U S A
Hauptverfasser: Godowski, P J, Leung, D W, Meacham, L R, Galgani, J P, Hellmiss, R, Keret, R, Rotwein, P S, Parks, J S, Laron, Z, Wood, W I
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 1989
Schlagworte:
Online-Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298219/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2813379/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.20.8083
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