TY  - GEN
AU  - Tajouri,Asma
AU  - Ben Gaied,Dorsaf
AU  - Hizem,Syrine
AU  - Boujelben,Salma
AU  - Maazoul,Faouzi
AU  - M'rad,Ridha
AU  - Poulat,Francis
AU  - Kharrat,Maher
TI  - Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis
SN  - 1661-5433
PY  - 2018///0521
KW  - Adolescent
KW  - Base Sequence
KW  - Codon
KW  - genetics
KW  - DNA
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - Female
KW  - Gonadal Dysgenesis
KW  - Gonadal Dysgenesis, 46,XY
KW  - HEK293 Cells
KW  - Humans
KW  - Mutation
KW  - Nuclear Localization Signals
KW  - Sex-Determining Region Y Protein
KW  - Tyrosine
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1159/000478718
ER  -