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Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Crossref DOI link: https://doi.org/10.1186/s12863-014-0143-2

Published Online: 2014-12-14

Published Print: 2014-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Méndez-Vidal, Cristina

Bravo-Gil, Nereida

González-del Pozo, María

Vela-Boza, Alicia

Dopazo, Joaquín

Borrego, Salud

Antiñolo, Guillermo
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Article History

Received: 10 June 2014

Accepted: 3 December 2014

First Online: 14 December 2014