Log in to save to my catalogue

Molecular analysis of two uncharacterized sequence variants of the VHL gene

Molecular analysis of two uncharacterized sequence variants of the VHL gene

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68178368

Molecular analysis of two uncharacterized sequence variants of the VHL gene

About this item

Full title

Molecular analysis of two uncharacterized sequence variants of the VHL gene

Publisher

Tokyo: Springer Japan

Journal title

Journal of human genetics, 2006-11, Vol.51 (11), p.964-968

Language

English

Formats

Publication information

Publisher

Tokyo: Springer Japan

More information

Scope and Contents

Contents

Mutations in the
VHL
gene cause von Hippel–Lindau disease, a cancer predisposing syndrome characterized by a variety of benign and malignant neoplasms. We report the molecular characterization of two sequence variants of the
VHL
gene: a synonymous substitution c.462 A>C in exon 2 and a duplication of 11 bp in the promoter region (c.−65_...

Alternative Titles

Full title

Molecular analysis of two uncharacterized sequence variants of the VHL gene

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_68178368

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68178368

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1007/s10038-006-0054-9

How to access this item