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A novel missense mutation in NR0B1 causes delayed‐onset primary adrenal insufficiency in adults
Author(s) -
Oh C.M.,
Chun S.,
Lee J.E.,
Lee J.S.,
Park S.,
Gee H.Y.,
Kim S.W.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12966
Subject(s) - missense mutation , adrenal insufficiency , mutation , primary adrenal insufficiency , medicine , endocrinology , genetics , biology , gene
A novel missense mutation (c. 775T >C; p. ser259Pro ) in the NROBI gene cause a late‐onset adrenal insufficiency without hypogonadism.