Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing

BACKGROUND: Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challenging. And in view of the emergence of therapeutic options, i...

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Foilsithe in:Mol Genet Genomic Med
Main Authors: Abu‐Ameerh, Mohammed, Mohammad, Hashim, Dardas, Zain, Barham, Raghda, Ali, Dema, Bijawi, Maysa, Tawalbeh, Mohamed, Amr, Sami, Hatmal, Ma'mon M., Al‐Bdour, Muawyah, Awidi, Abdalla, Azab, Belal
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2020
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Original Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057102/
https://ncbi.nlm.nih.gov/pubmed/31968401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1123
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