Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

Karges, Beate

Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. [electronic resource] - The Journal of clinical endocrinology and metabolism Apr 2003 - 1873-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0021-972X

10.1210/jc.2002-020005 doi


Adult
Alanine
Binding Sites
Cell Line
Embryo, Mammalian
Gene Expression
Humans
Hydrogen Bonding
Hypogonadism--genetics
Kidney
Male
Models, Molecular
Mutation
Pedigree
Protein Conformation
Receptors, LHRH--chemistry
Signal Transduction
Structure-Activity Relationship
Threonine
Type C Phospholipases--metabolism