Genetic Diagnosis in Consanguineous Families With Kidney Disease by Homozygosity Mapping Coupled With Whole-Exome Sequencing

BACKGROUND: Accurate diagnosis of the primary cause of an individual’s kidney disease can be essential for proper management. Some kidney diseases have overlapping histopathological features despite being caused by defects in different genes. In this report we describe two consanguineous Saudi Arabi...

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Detalhes bibliográficos
Main Authors: Al-Romaih, Khaldoun I., Genovese, Giulio, Al-Mojalli, Hamad, Al-Othman, Saleh, Al-Manea, Hadeel, Al-Suleiman, Mohammed, Al-Jondubi, Mohammed, Atallah, Nourah, Al-Rodhyan, Maha, Weins, Astrid, Pollak, Martin R., Adra, Chaker N.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3291334/
https://ncbi.nlm.nih.gov/pubmed/21658830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.ajkd.2011.01.025
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