Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

BACKGROUND: Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease. METHODS: To define the phenotype and genotype of cysti...

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Zapisane w:
Opis bibliograficzny
Wydane w:J Med Genet
Główni autorzy: Al-Hamed, Mohamed H, Kurdi, Wesam, Alsahan, Nada, Alabdullah, Zainab, Abudraz, Rania, Tulbah, Maha, Alnemer, Maha, Khan, Rubina, Al-Jurayb, Haya, Alahmed, Ahmed, Tahir, Asma I, Khalil, Dania, Edwards, Noel, Al Abdulaziz, Basma, Binhumaid, Faisal S, Majid, Salma, Faquih, Tariq, El-Kalioby, Mohamed, Abouelhoda, Mohamed, Altassan, Nada, Monies, Dorota, Meyer, Brian, Sayer, John A, Albaqumi, Mamdouh
Format: Artigo
Język:Inglês
Wydane: BMJ Publishing Group 2016
Hasła przedmiotowe:
Developmental Defects
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4853542/
https://ncbi.nlm.nih.gov/pubmed/26862157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103469
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