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A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease.

作者信息

Jamshidi Javad, Naderi Hamed, Taghavi Shaghayegh, Emamalizadeh Babak, Darvish Hossein

机构信息

Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran .

Department of Neurology, School of Medicine, Imam Khomeini Hospital AND Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Int J Mol Cell Med. 2016 Spring;5(2):123-4. Epub 2016 Jun 8.

PMID:27478809
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4947217/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a0a/4947217/e9f0a27e7267/ijmcm-5-123-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a0a/4947217/e9f0a27e7267/ijmcm-5-123-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a0a/4947217/e9f0a27e7267/ijmcm-5-123-g001.jpg

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引用本文的文献

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Examining the Role of Polymorphisms in Exon 25 of the Gene in the Pathogenesis of Autosomal Dominant Polycystic Kidney Disease in ranian Patients.研究伊朗患者中该基因第25外显子多态性在常染色体显性多囊肾病发病机制中的作用。
Rep Biochem Mol Biol. 2019 Jul;8(2):102-110.

本文引用的文献

1
Autosomal Dominant Polycystic Kidney Disease: A Path Forward.常染色体显性多囊肾病:前进之路
Semin Nephrol. 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002.
2
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.无家族病史的常染色体显性多囊肾病患者中从头突变的存在情况。
Am J Kidney Dis. 2008 Dec;52(6):1042-50. doi: 10.1053/j.ajkd.2008.05.015. Epub 2008 Jul 21.