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Article

A vital region for human glycoprotein hormone trafficking revealed by an LHB mutation

21 Sept 2016

Abstract excerpt

Glycoprotein hormones are complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating Luteinizing hormone beta (LHB) gene mutations are exceptionally rare and lead to hypogonadism that is particularly severe in males. We describe a family with selective LH deficiency and hypogonadism in two brothers. DNA sequencing of...

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PMID: 27656125
DOI: 10.1530/joe-16-0384

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