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Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation
Several genes have been implicated in the autosomal recessive form of cone–rod dystrophy (CRD), but the majority of cases remain unsolved. We identified a homozygous interval comprising two known genes associated with the autosomal recessive form of CRD, namely RAB28 and PROM1, in a consanguineous f...
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| Publicado no: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4755378/ https://ncbi.nlm.nih.gov/pubmed/26153215 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.144 |
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