| Autor: |
Jürgen Klammt, David Neumann, Evelien F. Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A. Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul T. Dattani, Andrew Dauber, Vivian Hwa |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2041-1723 |
| DOI: |
10.1038/s41467-018-04521-0 |
| Popis: |
Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune defects. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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