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Extending the clinical phenotype associated with biallelic NTHL1 germline mutations

dc.creatorFostira F., Kontopodis E., Apostolou P., Fragkaki M., Androulakis N., Yannoukakos D., Konstantopoulou I., Saloustros E.en
dc.date.accessioned2023-01-31T07:38:21Z
dc.date.available2023-01-31T07:38:21Z
dc.date.issued2018
dc.identifier10.1111/cge.13444
dc.identifier.issn00099163
dc.identifier.urihttp://hdl.handle.net/11615/71663
dc.description.abstract[No abstract available]en
dc.language.isoenen
dc.sourceClinical Geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85053719441&doi=10.1111%2fcge.13444&partnerID=40&md5=9d9a495409a6c9de18e53cc02ca3d8ea
dc.subjectdeoxyribonuclease (pyrimidine dimer)en
dc.subjectNTHL1 protein, humanen
dc.subjectalleleen
dc.subjectbiopsyen
dc.subjectcolon polyposisen
dc.subjectcolonoscopeen
dc.subjectfemaleen
dc.subjectgenetic association studyen
dc.subjectgenetic predispositionen
dc.subjectgeneticsen
dc.subjectgermline mutationen
dc.subjecthumanen
dc.subjectintestine mucosaen
dc.subjectmaleen
dc.subjectnuclear magnetic resonance imagingen
dc.subjectpathologyen
dc.subjectpedigreeen
dc.subjectphenotypeen
dc.subjectAdenomatous Polyposis Colien
dc.subjectAllelesen
dc.subjectBiopsyen
dc.subjectColonoscopesen
dc.subjectDeoxyribonuclease (Pyrimidine Dimer)en
dc.subjectFemaleen
dc.subjectGenetic Association Studiesen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGerm-Line Mutationen
dc.subjectHumansen
dc.subjectIntestinal Mucosaen
dc.subjectMagnetic Resonance Imagingen
dc.subjectMaleen
dc.subjectPedigreeen
dc.subjectPhenotypeen
dc.subjectBlackwell Publishing Ltden
dc.titleExtending the clinical phenotype associated with biallelic NTHL1 germline mutationsen
dc.typeotheren


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