Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal.
Ravel
Celia
C
EA1533 Faculté de médecine Pierre et Marie Curie, Paris, France. cravel@pasteur.fr
Lakhal
B
B
Elghezal
H
H
Braham
R
R
Saad
A
A
Bashamboo
A
A
Siffroi
J P
JP
McElreavey
K
K
Christin-Maitre
S
S
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*
D003062:Codon; D009711:Nucleotides; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein