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Severe Growth Deficiency is Associated with STAT5b Mutations that Disrupt Protein Folding and Activity

The first genetic defect in human signal transducer and activator of transcription (STAT)5b was identified in an individual with profound short stature and GH insensitivity, immune dysfunction, and severe pulmonary disease, and was caused by an alanine to proline substitution (A630P) within the Src...

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Bibliografske podrobnosti
Main Authors: Varco-Merth, Benjamin, Feigerlová, Eva, Shinde, Ujwal, Rosenfeld, Ron G., Hwa, Vivian, Rotwein, Peter
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2013
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3545219/
https://ncbi.nlm.nih.gov/pubmed/23160480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/me.2012-1275
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