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A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

✍ Scribed by Lawton, Sally; Hickerton, Chriselle; Archibald, Alison D; McClaren, Belinda J; Metcalfe, Sylvia A

Book ID
125975786
Publisher
Nature Publishing Group
Year
2014
Tongue
English
Weight
268 KB
Volume
23
Category
Article
ISSN
1018-4813

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PRENATAL DIAGNOSIS OF X-LINKED SPINAL AN
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✍ CHRISTOS YAPIJAKIS; ELISABETH KAPAKI; MARINA BOUSSIOU; DIMITRIS VASSILOPOULOS; C 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 495 KB 👁 2 views

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