Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. [electronic resource]
- European journal of human genetics : EJHG Jan 2007
- 76-80 p. digital
Publication Type: Case Reports; Journal Article
1018-4813
10.1038/sj.ejhg.5201719 doi
Adolescent Amino Acid Sequence Amino Acid Substitution Exons Female Genes, sry Gonadal Dysgenesis, 46,XY--genetics HMG-Box Domains Humans Male Models, Molecular Molecular Sequence Data Mutation Protein Conformation Protein Structure, Secondary Sex-Determining Region Y Protein--chemistry