TY  - GEN
AU  - Gimelli,Giorgio
AU  - Gimelli,Stefania
AU  - Dimasi,Nazzareno
AU  - Bocciardi,Renata
AU  - Di Battista,Eliana
AU  - Pramparo,Tiziano
AU  - Zuffardi,Orsetta
TI  - Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis
SN  - 1018-4813
PY  - 2007///0329
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Exons
KW  - Female
KW  - Genes, sry
KW  - Gonadal Dysgenesis, 46,XY
KW  - genetics
KW  - HMG-Box Domains
KW  - Humans
KW  - Male
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Protein Conformation
KW  - Protein Structure, Secondary
KW  - Sex-Determining Region Y Protein
KW  - chemistry
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/sj.ejhg.5201719
ER  -