Publication Date:
2015-07-09
Description:
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation European Journal of Human Genetics advance online publication, July 8 2015. doi:10.1038/ejhg.2015.144 Authors: Anja K Mayer, Klaus Rohrschneider, Tim M Strom, Nicola Glöckle, Susanne Kohl, Bernd Wissinger & Nicole Weisschuh
Print ISSN:
1018-4813
Electronic ISSN:
1476-5438
Topics:
Biology
,
Medicine
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