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pro vyhledávání: '"Lähteenoja, L. (Laura)"'
Autor:
Lähteenoja, L. (Laura)
Background. Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::2a6a274b331cd63a088f578d7b586fd7
http://jultika.oulu.fi/Record/nbnfioulu-202212313886
http://jultika.oulu.fi/Record/nbnfioulu-202212313886
Autor:
Lähteenoja, L. (Laura), Häkli, S. (Sanna), Tuupanen, S. (Sari), Kuismin, O. (Outi), Palosaari, T. (Tapani), Rahikkala, E. (Elisa), Falck, A. (Aura)
Background: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::afb9e2a827923a4e264c235e1c8fcb24
http://urn.fi/urn:nbn:fi-fe2022092159767
http://urn.fi/urn:nbn:fi-fe2022092159767