Pernille M Tørring Anette D Kjeldsen Lilian Bomme Ousager Klaus Brusgaard
10.1002/mgg3.361
Mol Genet Genomic Med
2018 Jan;6(1):121-125.
eng hht genetic testing hereditary hemorrhagic telangiectasia mosaic mosaicism mutational mosaicism
CC BY
https://pubmed.ncbi.nlm.nih.gov/29243366/
Endoglin / genetics Telangiectasia, Hereditary Hemorrhagic / genetics
Endoglin / genetics Telangiectasia, Hereditary Hemorrhagic / genetics Case Reports Activin Receptors, Type II / genetics Adult Aged Base Sequence Endoglin / physiology Exons Female Frameshift Mutation Genetic Testing Humans Mosaicism Mutation Pedigree Smad4 Protein / genetics Telangiectasia, Hereditary Hemorrhagic / physiopathology ENG protein, human Endoglin SMAD4 protein, human Smad4 Protein ACVRL1 protein, human Activin Receptors, Type II
PMC5823686
29243366
ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
2018