TY  - GEN
AU  - Allen,Linda A
AU  - Achermann,John C
AU  - Pakarinen,Pirjo
AU  - Kotlar,Thomas J
AU  - Huhtaniemi,Ilpo T
AU  - Jameson,J Larry
AU  - Cheetham,Tim D
AU  - Ball,Stephen G
TI  - A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics
SN  - 0268-1161
PY  - 2003///0821
KW  - Adolescent
KW  - Amenorrhea
KW  - genetics
KW  - Amino Acid Substitution
KW  - Animals
KW  - COS Cells
KW  - Chromosome Painting
KW  - DNA
KW  - Exons
KW  - Female
KW  - Follicle Stimulating Hormone
KW  - pharmacology
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Hypogonadism
KW  - Microsatellite Repeats
KW  - Mutation
KW  - Pedigree
KW  - Receptors, FSH
KW  - drug effects
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1093/humrep/deg046
ER  -