Article
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).
Gene - 1 Mar 2013
Koika Vasiliki, Varnavas Petros, Valavani Helen, Sidis Yisrael, Plummer Lacey, Dwyer Andrew, Quinton Richard, Kanaka-Gantenbein Christine, Pitteloud Nelly, Sertedaki Amalia, Dacou-Voutetakis Catherine, Georgopoulos Neoklis A
Abstract excerpt
FGFR1 mutations have been identified in both Kallmann syndrome and normosmic HH (nIHH). To date, few mutations in the FGFR1 gene have been structurally or functionally characterized in vitro to identify molecular mechanisms that contribute to the disease pathogenesis. We attempted to define the i...
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