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Article

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

Human genetics - 1 Jun 2001

Georgiou I, Sermon K, Lissens W, De Vos A, Platteau P, Lolis D, Van Steirteghem A, Liebaers I

Abstract excerpt

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 the androgen receptor gene and describe the application of this...

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PMID: 11499674
DOI: 10.1007/s004390100534

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PGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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