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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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Hlavní autoři: Varco-Merth, Benjamin, Feigerlová, Eva, Shinde, Ujwal, Rosenfeld, Ron G., Hwa, Vivian, Rotwein, Peter
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2013
Témata:
On-line přístup: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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