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SMAD4 mutations found in unselected HHT patients

SMAD4 mutations found in unselected HHT patients

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2563178

SMAD4 mutations found in unselected HHT patients

About this item

Full title

SMAD4 mutations found in unselected HHT patients

Publisher

London: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2006-10, Vol.43 (10), p.793-797

Language

English

Formats

Publication information

Publisher

London: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

Background: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease exhibiting multifocal vascular telangiectases and arteriovenous malformations. The majority of cases are caused by mutations in either the endoglin (ENG) or activin receptor-like kinase 1 (ALK1, ACVRL1) genes; both members of the transforming growth factor (TG...

Alternative Titles

Full title

SMAD4 mutations found in unselected HHT patients

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2563178

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2563178

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg.2006.041517

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