New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applicati...
New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications
About this item
Full title
Author / Creator
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Huntington's disease (HD) is a late-onset neurodegenerative disorder transmitted as an autosomal dominant trait. The causative mutation was characterised in 1993. For HD carriers willing to create a family, prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD) based on the mutation identification can be offered. For at-risk persons wh...
Alternative Titles
Full title
New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04133447v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04133447v1
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201291
