Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major...

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Detalhes bibliográficos
Main Authors: Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O., Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-zack, Mohamed D., Nassan, Malik, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3561865/
https://ncbi.nlm.nih.gov/pubmed/23105016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.144105.112
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