scholarly journals A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty

1995 ◽  
Vol 80 (11) ◽  
pp. 3168-3172 ◽  
Author(s):  
R. Kraaij
Keyword(s):  
Luteinizing Hormone ◽  
Missense Mutation ◽  
Precocious Puberty ◽  
Hormone Receptor ◽  
Luteinizing Hormone Receptor ◽  
Transmembrane Segment

Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty

2003 ◽  
Vol 59 (4) ◽  
pp. 533-534 ◽  
Author(s):  
Ana Claudia Latronico ◽  
Ana Elisa C. Billerbeck ◽  
Emilia Modolo Pinto ◽  
Catarina Brazil d’Alva ◽  
Ivo Jorge P. Arnhold ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Precocious Puberty ◽  
Hormone Receptor ◽  
Receptor Gene ◽  
Luteinizing Hormone Receptor ◽  
Activating Mutation ◽  
Hormone Receptor Gene

scholarly journals Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty

1995 ◽  
Vol 4 (2) ◽  
pp. 183-188 ◽  
Author(s):  
Shinji Kosugi ◽  
Cornelis Van Dop ◽  
Mitchell E. Geffner ◽  
Wolfgang Rabl ◽  
Jean-Claude Carel ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Precocious Puberty ◽  
Hormone Receptor ◽  
Luteinizing Hormone Receptor ◽  
Constitutive Activation

scholarly journals A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

Nature ◽  
1993 ◽  
Vol 365 (6447) ◽  
pp. 652-654 ◽  
Author(s):  
Andrew Shenker ◽  
Louisa Laue ◽  
Shinji Kosugi ◽  
John J. Merendino ◽  
Takashi Minegishi ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Precocious Puberty ◽  
Hormone Receptor ◽  
Luteinizing Hormone Receptor ◽  
Activating Mutation
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