TY  - GEN
AU  - Karges,Beate
AU  - Karges,Wolfram
AU  - Mine,Manuele
AU  - Ludwig,Leopold
AU  - Kühne,Ronald
AU  - Milgrom,Edwin
AU  - de Roux,Nicolas
TI  - Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism
SN  - 0021-972X
PY  - 2003///0509
KW  - Adult
KW  - Alanine
KW  - Binding Sites
KW  - Cell Line
KW  - Embryo, Mammalian
KW  - Gene Expression
KW  - Humans
KW  - Hydrogen Bonding
KW  - Hypogonadism
KW  - genetics
KW  - Kidney
KW  - Male
KW  - Models, Molecular
KW  - Mutation
KW  - Pedigree
KW  - Protein Conformation
KW  - Receptors, LHRH
KW  - chemistry
KW  - Signal Transduction
KW  - Structure-Activity Relationship
KW  - Threonine
KW  - Type C Phospholipases
KW  - metabolism
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1210/jc.2002-020005
ER  -