Open AccessPrevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients
Author(s) -
Sari Tuupanen,
Kimberly Gall,
Johanna Sistonen,
Inka Saarinen,
Kati Kämpjärvi,
Kirsty Wells,
Katja Merkkiniemi,
Pernilla von Nandelstadh,
Laura Sarantaus,
Johanna Känsäkoski,
Emma Mårtenson,
Hanna Västinsalo,
Jennifer Schleit,
EevaMarja Sankila,
Annakarin Kere,
Heidi Junnila,
Pauli Siivonen,
Margarita Andreevskaya,
Ville Kytölä,
Mikko Muona,
Pertteli Salmenperä,
Samuel Myllykangas,
Juha Koskenvuo,
Tero-Pekka Alastalo
Publication year - 2022
Publication title -
translational vision science and technology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.508
H-Index - 21
ISSN - 2164-2591
DOI - 10.1167/tvst.11.1.6
Subject(s) - genetic testing , diagnostic test , medical genetics , genetics , computational biology , sequence (biology) , dna sequencing , cohort , biology , medicine , bioinformatics , pathology , gene , pediatrics