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Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to cha...

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to cha...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67110552

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion

About this item

Full title

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion

Publisher

Heidelberg: Springer

Journal title

Human genetics, 2004-11, Vol.115 (6), p.459-467

Language

English

Formats

Publication information

Publisher

Heidelberg: Springer

More information

Scope and Contents

Contents

With the recent advances in genomic research, it has become apparent that a substantial part of human malformation and mental retardation is caused by imbalances in genomic content. Thus, there is an increasing need for versatile methods allowing a detailed mapping and cloning of the actual rearrangements. We have combined the flexibility of real-t...

Alternative Titles

Full title

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_67110552

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67110552

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-004-1174-y

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