Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Gimelli, Giorgio

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