A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1

Adolfo Rivero Müller, I Potorac, A Pintiaux, AF Daly, A Thiry, C Rydlewski, M Nisolle, AS Parent, I Huhtaniemi, A Beckers

Research output: Contribution to journalArticleScientific

9 Citations (Scopus)

Abstract

Conclusions: This novel LHCGR mutation leads to complete inactivation of the LHCGR receptor due to trafficking and signalling abnormalities, which improves our understanding of the impact of the affected structural domain on receptor trafficking and function.
Original languageUndefined/Unknown
Pages (from-to)K27–K36
Number of pages10
JournalEuropean Journal of Endocrinology
Volume172
Issue number6
DOIs
Publication statusPublished - 2015
MoE publication typeB1 Article in a scientific magazine

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