• PMID: 1727547
• Gene Name: LHB
• Condition: Hypogonadism, Spermatogenetic defects
• Association: The mutation in the LH? gene that we described occurs at an amino acid (glutamine 54) that is conserved in all ? subunits of the glycoprotein hormones,5 suggesting that this residue may have an important role in hormone structure or function.
• Mutation: R54N of the LH? subunit
• Population size: 4
• Population details: 4 infertile
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Hypogonadism, Spermatogenetic defects

Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone

Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley WF, Jameson JL.

No abstract available