title: Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal.
authors.affiliation: EA1533 Faculté de médecine Pierre et Marie Curie, Paris, France. cravel@pasteur.fr
authors.forename: Celia
authors.initials: C
authors.lastname: Ravel
authors.forename: B
authors.initials: B
authors.lastname: Lakhal
authors.forename: H
authors.initials: H
authors.lastname: Elghezal
authors.forename: R
authors.initials: R
authors.lastname: Braham
authors.forename: A
authors.initials: A
authors.lastname: Saad
authors.forename: A
authors.initials: A
authors.lastname: Bashamboo
authors.forename: J P
authors.initials: JP
authors.lastname: Siffroi
authors.forename: K
authors.initials: K
authors.lastname: McElreavey
authors.forename: S
authors.initials: S
authors.lastname: Christin-Maitre
mesh_terms: D000328:Adult; D001483:Base Sequence; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D003062:Codon; D005260:Female; D024282:Genes, sry; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000737:chemistry / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA; D051876:Sex-Determining Region Y Protein / Q000235:genetics*
chemical_list: D003062:Codon; D009711:Nucleotides; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein