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Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors Ana Claudia Latronico, Deborah L. Segaloff The American Journal of Human Genetics Volume 65, Issue 4, Pages (October 1999) DOI: /302602 Copyright © 1999 The American Society of Human Genetics Terms and Conditions
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Figure 1 Gain-of-function mutations of the hLHR gene. The schematic representation of the hLHR indicates positions of constitutively activating mutations of the hLHR gene that cause sporadic or familial male-limited pseudoprecocious puberty. The American Journal of Human Genetics , DOI: ( /302602) Copyright © 1999 The American Society of Human Genetics Terms and Conditions
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Figure 2 Loss-of-function mutations of the hLHR gene. The schematic representation of the hLHR indicates positions of hLHR mutations in males and females with LH/hCG resistance. The blackened area indicates the extracellular region that is deleted on deletion of exon 8. The triangle indicates the position of an 11-amino-acid insertion. The American Journal of Human Genetics , DOI: ( /302602) Copyright © 1999 The American Society of Human Genetics Terms and Conditions
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