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ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG,ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de nov...
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| Publicado en: | Mol Genet Genomic Med |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5823686/ https://ncbi.nlm.nih.gov/pubmed/29243366 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.361 |
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