Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.

Autor: German, Ryan J.1,2 (AUTHOR), Vuocolo, Blake1,2 (AUTHOR), Vossaert, Liesbeth1,3 (AUTHOR), Owen, Nichole1,3 (AUTHOR), Lewis, Richard A.1,4,5 (AUTHOR), Saba, Lisa6 (AUTHOR), Wangler, Michael F.1,2,7 (AUTHOR) michael.wangler@bcm.edu, Nagamani, Sandesh1,4,7 (AUTHOR)
Zdroj: Molecular Genetics & Genomic Medicine. Feb2024, Vol. 12 Issue 2, p1-9. 9p.
Databáze: Academic Search Ultimate
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