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Article

Molecular basis for the Kallmann syndrome-linked fibroblast growth factor receptor mutation.

Biochemical and biophysical research communications - 31 Aug 2012

Thurman Ryan D, Kathir Karuppanan Muthusamy, Rajalingam Dakshinamurthy, Kumar Thallapuranam K Suresh

Abstract excerpt

Kallmann syndrome (KS) is a developmental disease that expresses in patients as hypogonadotropic hypogonadism and anosmia. KS is commonly associated with mutations in the extracellular D2 domain of the fibroblast growth factor receptor (FGFR). In this study, for the first time, the molecular basis for the FGFR associated KS mutation (A168S) is elucidated using a variety of biophysical experiments, including...

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Identifiers

PMID: 22842457
DOI: 10.1016/j.bbrc.2012.07.104
PMCID: PMC3729937

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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