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PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
Kallmann syndrome (KS) combines hypogonadism due to gonadotropin-releasing hormone deficiency, and anosmia or hyposmia, related to defective olfactory bulb morphogenesis. In a large series of KS patients, ten different missense mutations (p.R85C, p.R85H, p.R164Q, p.L173R, p.W178S, p.Q210R, p.R268C,...
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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2009
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3298864/ https://ncbi.nlm.nih.gov/pubmed/18826963 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn318 |
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