A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

Allen, Linda A

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. [electronic resource] - Human reproduction (Oxford, England) Feb 2003 - 251-6 p. digital

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

0268-1161

10.1093/humrep/deg046 doi


Adolescent
Amenorrhea--genetics
Amino Acid Substitution
Animals
COS Cells
Chromosome Painting
DNA--genetics
Exons--genetics
Female
Follicle Stimulating Hormone--pharmacology
Genes, Recessive
Homozygote
Humans
Hypogonadism--genetics
Microsatellite Repeats
Mutation
Pedigree
Receptors, FSH--drug effects