New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism.
Meloni
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Istituto di Ricerca sulle Talassemie e Anemie Mediterranee, Università degli Studi di Cagliari, Italy.
Meloni
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Cao
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Rosatelli
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D000307:Adrenal Gland Diseases / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002675:Child, Preschool; D018388:Codon, Terminator; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D016368:Frameshift Mutation; D008040:Genetic Linkage; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008297:Male; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome
D018388:Codon, Terminator; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors