Log in to save to my catalogue

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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71083877

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

About this item

Full title

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

Publisher

Heidelberg: Springer

Journal title

Human genetics, 2001-06, Vol.108 (6), p.494-498

Language

English

Formats

Publication information

Publisher

Heidelberg: Springer

More information

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...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_71083877

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71083877

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s004390100534

How to access this item