Open AccessFunctional Consequences ofAXLSequence Variants in Hypogonadotropic Hypogonadism
Author(s) -
Smita SalianMehta,
Mei Xu,
Alan J. Knox,
Lacey Plummer,
Dobromir Slavov,
Matthew R.G. Taylor,
Shaun Bevers,
Robert S. Hodges,
W F Crowley,
Margaret E. Wierman
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2013-3426
Subject(s) - hypogonadotropic hypogonadism , endocrinology , medicine , biology , missense mutation , kallmann syndrome , mutation , exon , null allele , genetics , mutant , gene , hormone , disease , covid-19 , infectious disease (medical specialty)
Prior studies showed that Axl /Tyro3 null mice have delayed first estrus and abnormal cyclicity due to developmental defects in GnRH neuron migration and survival.
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