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A case of Kallmann syndrome associated to a novel missense mutation of the FGFR1 gene
Background: Loss-of-function mutations of fibroblast growth factor receptor 1 gene (FGFR1) have been reported so far. These mutations have been described in the extracellular domain, consisting of three Ig-like domains in the single transmembrane helix and in the intracellular region, containing a t...
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| Publicado no: | Acta Biomed |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Mattioli 1885
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7233765/ https://ncbi.nlm.nih.gov/pubmed/31910188 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.23750/abm.v90i4.7170 |
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