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

McDonald, J

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. [electronic resource] - Clinical genetics Apr 2011 - 335-44 p. digital

Publication Type: Journal Article

1399-0004

10.1111/j.1399-0004.2010.01596.x doi


Activin Receptors, Type II--genetics
Antigens, CD--genetics
Base Sequence
DNA Mutational Analysis
Endoglin
Exons--genetics
Frameshift Mutation
Gene Duplication
Humans
Mosaicism
Mutation
Mutation, Missense
RNA Splice Sites--genetics
Receptors, Cell Surface--genetics
Sequence Deletion
Telangiectasia, Hereditary Hemorrhagic--diagnosis