Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Helene Gry Gellert-Kristensen"'
Autor:
Cathrine, Jespersgaard, Mette, Bertelsen, Farah, Arif, Helene Gry, Gellert-Kristensen, Mingyan, Fang, Hanne, Jensen, Thomas, Rosenberg, Zeynep, Tümer, Lisbeth Birk, Møller, Karen, Brøndum-Nielsen, Karen, Grønskov
Publikováno v:
Genes
Bi-allelic pathogenic variants in MERTK cause retinitis pigmentosa (RP). Since deletions of more than one exon have been reported repeatedly for MERTK, CNV (copy number variation) analysis of next-generation sequencing (NGS) data has proven important