Article
Mutation analysis of INSL3 and GREAT/LGR8 genes in familial cryptorchidism.
Urology - 1 Nov 2004
Feng Shu, Cortessis Victoria K, Hwang Andrew, Hardy Brian, Koh Chester J, Bogatcheva Natalia V, Agoulnik Alexander I
Abstract excerpt
OBJECTIVES: Male mice deficient in insulin-like 3 hormone (Insl3) or its receptor, Great/Lgr8, exhibit cryptorchidism. Recently, sequence analysis of the human INSL3 and GREAT genes identified several allelic variants. These include polymorphisms without apparent functional consequence and a few alleles encoding products with compromised function. However, loss-of-function alleles appear to be rare in human...
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