Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)
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Publisher
Heidelberg: Springer
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Language
English
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Publisher
Heidelberg: Springer
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Scope and Contents
Contents
X-linked spinal and bulbar muscular atrophy is characterized by adult onset motor neuron disease and results from a defect in the androgen receptor. The disease is caused by a dynamic mutation in the first exon of the androgen receptor gene, involving a CAG trinucleotide repeat. We have developed a single-cell polymerase chain reaction assay for th...
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Full title
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)
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TN_cdi_proquest_miscellaneous_71083877
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71083877
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ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s004390100534