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Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

BACKGROUND: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive clinical and genetic heterogeneity present in this group of disorders. Here, we describe the clinical application of an integrated next-generation sequencing approach to determine th...

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Dettagli Bibliografici
Pubblicato in:BMC Genet
Autori principali: Méndez-Vidal, Cristina, Bravo-Gil, Nereida, González-del Pozo, María, Vela-Boza, Alicia, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4271491/
https://ncbi.nlm.nih.gov/pubmed/25494902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12863-014-0143-2
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