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Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)

✍ Scribed by Ioannis Georgiou; Karen Sermon; Willy Lissens; Anick De Vos; Peter Platteau; Dimitrios Lolis; Andre Van Steirteghem; Inge Liebaers

Publisher
Springer
Year
2001
Tongue
English
Weight
57 KB
Volume
108
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES

PRENATAL DIAGNOSIS OF X-LINKED SPINAL AN
PRENATAL DIAGNOSIS OF X-LINKED SPINAL AND BULBAR MUSCULAR ATROPHY IN A GREEK FAMILY
✍ CHRISTOS YAPIJAKIS; ELISABETH KAPAKI; MARINA BOUSSIOU; DIMITRIS VASSILOPOULOS; C πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 495 KB πŸ‘ 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