PRENATAL DIAGNOSIS OF X-LINKED SPINAL AN
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CHRISTOS YAPIJAKIS; ELISABETH KAPAKI; MARINA BOUSSIOU; DIMITRIS VASSILOPOULOS; C
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Article
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1996
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John Wiley and Sons
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English
β 495 KB
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X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG), in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male