Novel mutations inENGandACVRL1identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype-Reference-Cited by-同舟云学术

Novel mutations inENGandACVRL1identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

Published:2006-07 Issue:7 Volume:27 Page:667-675
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Bossler Aaron D.,Richards Jennifer,George Cicily,Godmilow Lynn,Ganguly Arupa

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

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

4. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations;Berg;J Med Genet,2003

5. ESEfinder: a web resource to identify exonic splicing enhancers;Cartegni;Nucleic Acids Res,2003

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