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Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

✍ Scribed by La Spada, Albert R.; Roling, Daniel B.; Harding, Anita E.; Warner, Carolyn L.; Spiegel, Roland; Hausmanowa-Petrusewicz, Irena; Yee, Woon-Chee; Fischbeck, Kenneth H.

Book ID
109918813
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
444 KB
Volume
2
Category
Article
ISSN
1061-4036

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Somatic stability of the expanded CAG tr
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✍ Roland Spiegel; Albert R. La Spada; Wolfram Kress; Kenneth H. Fischbeck; Werner 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 872 KB

Expansion of trinucleotide repeats has now been associated with eight inherited diseases: X-linked spinal and bulbar muscular atrophy, two fragile X syndromes, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy and Machado-Joseph disease. It

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 📂 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