TY  - GEN
AU  - Teles,M G
AU  - Trarbach,E B
AU  - Noel,S D
AU  - Guerra-Junior,G
AU  - Jorge,A
AU  - Beneduzzi,D
AU  - Bianco,S D
AU  - Mukherjee,A
AU  - Baptista,M T
AU  - Costa,E M
AU  - De Castro,M
AU  - Mendonça,B B
AU  - Kaiser,U B
AU  - Latronico,A C
TI  - A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism
SN  - 1479-683X
PY  - 2010///0702
KW  - Animals
KW  - Brazil
KW  - COS Cells
KW  - Chlorocebus aethiops
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Hypogonadism
KW  - genetics
KW  - Male
KW  - Mutation
KW  - Puberty, Delayed
KW  - RNA Splice Sites
KW  - Receptors, G-Protein-Coupled
KW  - Receptors, Kisspeptin-1
KW  - Siblings
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1530/EJE-10-0012
ER  -