Log in to save to my catalogue

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the...

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_17741766

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

About this item

Full title

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Publisher

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Journal title

Human mutation, 2005-02, Vol.25 (2), p.207-221

Language

English

Formats

Publication information

Publisher

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

More information

Scope and Contents

Contents

Although gross insertions (>20 bp) comprise <1% of disease‐causing mutations, they nevertheless represent an important category of pathological lesion. In an attempt to study these insertions in a systematic way, 158 gross insertions ranging in size between 21 bp and ∼10 kb were identified using the Human Gene Mutation Database (www.hgmd.org). A ca...

Alternative Titles

Full title

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_17741766

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_17741766

Other Identifiers

ISSN

1059-7794

E-ISSN

1098-1004

DOI

10.1002/humu.20133

How to access this item