Open AccessCongenital Adrenal Hyperplasia with Compound Heterozygous I2 Splice and P453S Mutations
Author(s) -
Burcu Almacan,
Nilüfer Özdemir Kutbay,
Hüseyin Önay,
Zeliha Hekimsoy
Publication year - 2022
Publication title -
acta endocrinologica (bucharest)
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.249
H-Index - 13
eISSN - 1843-066X
pISSN - 1841-0987
DOI - 10.4183/aeb.2022.228
Subject(s) - endocrinology , congenital adrenal hyperplasia , medicine , allele , mutation , 21 hydroxylase , splice site mutation , adrenal cortex , acth stimulation test , point mutation , biology , genetics , adrenocorticotropic hormone , gene , exon , alternative splicing , hormone
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom