Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis-Reference-Cited by-同舟云学术

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis

Published:2010-12-16 Issue:4 Volume:79 Page:335-344
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

McDonald J,Damjanovich K,Millson A,Wooderchak W,Chibuk JM,Stevenson DA,Gedge F,Bayrak-Toydemir P

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01596.x/fullpdf

Reference31 articles.

1. Hereditary hemorrhagic telangiectasia: a clinical and scientific review.;Govani;Eur J Hum Genet,2009

2. Hereditary hemorrhagic telangiectasia: an overview of diagnostic and management in the molecular era for clinicians.;Bayrak-Toydemir;Genet Med,2004

3. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.;Bossler;Hum Mutat,2006

4. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.;Prigoda;J Med Genet,2006

5. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).;Gallione;Lancet,2004

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