Identification of a novel mutation in the SRY gene in a 46, XY female patient

European Journal of Medical Genetics

Volumn 49, Issue 6, 2006, Pages 494-498

  Salehi, L Baghernajad ^a   Scarciolla, O ^b   Vanni, G Frajese ^a   Nardone, A M ^a   Frajese, G ^a   Novelli, G ^a   Stuppia, L ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

Author keywords

SRY gene; Swyer, TDF, testis determining factor

Indexed keywords

HORMONE; DNA; SRY PROTEIN, HUMAN; TESTIS DETERMINING FACTOR;

ADOLESCENT; ARTICLE; CASE REPORT; DNA BINDING MOTIF; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GONADAL DYSGENESIS; HOMEOBOX; HORMONAL THERAPY; HUMAN; KARYOTYPE 46,XY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; SEQUENCE ANALYSIS; SRY GENE; STOP CODON; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; MALE; MOLECULAR GENETICS;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; FEMALE; FRAMESHIFT MUTATION; GENES, SRY; GONADAL DYSGENESIS, 46,XY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; SEX-DETERMINING REGION Y PROTEIN;

EID: 33845921573     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.03.003     Document Type: Article

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