Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. [electronic resource]
Producer: 20110722Description: 335-44 p. digitalISSN:- 1399-0004
- 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
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Publication Type: Journal Article
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