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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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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Endocrine Society
2013
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| Matèries: | |
| Accés en línia: | 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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