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

Forskningsoutput: TidskriftsbidragArtikelVetenskaplig

9 Citeringar (Scopus)

Sammanfattning

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.
OriginalspråkOdefinierat/okänt
Sidor (från-till)K27–K36
Antal sidor10
TidskriftEuropean Journal of Endocrinology
Volym172
Utgåva6
DOI
StatusPublicerad - 2015
MoE-publikationstypB1 Artikel i en vetenskaplig tidskrift

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