Open AccessA Novel Human Congenital Cataract Mutation in EPHA2 Kinase Domain (p.G668D) Alters Receptor Stability and Function
Author(s) -
Yi Zhai,
Sha Zhu,
Jinyu Li,
Ke Yao
Publication year - 2019
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.19-27370
Subject(s) - eph receptor a2 , function (biology) , medicine , protein kinase domain , mutation , cancer research , receptor , biology , microbiology and biotechnology , genetics , gene , receptor tyrosine kinase , mutant
To identify the genetic defect in a four-generation Chinese family that causes autosomal dominant congenital posterior subcapsular cataracts, and to understand how this EPHA2 kinase domain mutation affects EPHA2 activity.
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