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Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.

Authors :
Satoshi Yamagata
Kazunori Kageyama
Takeshi Usui
Kohei Saito
Shinobu Takayasu
Mari Usutani
Ken Terui
Makoto Daimon
Source :
Endocrine Journal; 2022, Vol. 69 Issue 2, p115-120, 6p
Publication Year :
2022

Details

Language :
English
ISSN :
09188959
Volume :
69
Issue :
2
Database :
Complementary Index
Journal :
Endocrine Journal
Publication Type :
Academic Journal
Accession number :
155541877
Full Text :
https://doi.org/10.1507/endocrj.ej21-0266