KEGG   VARIANT: 3973v1
Entry
3973v1                      Variant                                

Name
LHCGR mutation
Gene
LHCGR  luteinizing hormone/choriogonadotropin receptor [KO:K04248]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 3973
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
  Element
N00886  Mutation-activated LHCGR to LHCGR-GNAS-PKA signaling pathway
Reference
PMID:9703386
  Authors
Martin MM, Wu SM, Martin AL, Rennert OM, Chan WY
  Title
Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor.
  Journal
Eur J Endocrinol 139:101-6 (1998)
DOI:10.1530/eje.0.1390101
Reference
PMID:7757065
  Authors
Kosugi S, Van Dop C, Geffner ME, Rabl W, Carel JC, Chaussain JL, Mori T, Merendino JJ Jr, Shenker A
  Title
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
  Journal
Hum Mol Genet 4:183-8 (1995)
DOI:10.1093/hmg/4.2.183
Reference
PMID:7714085
  Authors
Yano K, Saji M, Hidaka A, Moriya N, Okuno A, Kohn LD, Cutler GB Jr
  Title
A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.
  Journal
J Clin Endocrinol Metab 80:1162-8 (1995)
DOI:10.1210/jcem.80.4.7714085

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