Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease. | Zendy

Atousa Hafizi | Zendy; Saeid Reza Khatami | Zendy; Hamid Galehdari | Zendy; Gholamreza Shariati | Zendy; Alihossein Saberi | Zendy; Mohammad Hamid | Zendy

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Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.

Author(s) -

Atousa Hafizi,

Saeid Reza Khatami,

Hamid Galehdari,

Gholamreza Shariati,

Alihossein Saberi,

Mohammad Hamid

Publication year - 2014

Publication title -

pubmed

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.519

H-Index - 31

eISSN - 2008-823X

pISSN - 1028-852X

DOI - 10.6091/ibj.1317.2014

Subject(s) - pkd1 , missense mutation , autosomal dominant polycystic kidney disease , exon , genetics , polycystic kidney disease , biology , allele , gene , mutation , kidney

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrated an important allelic variability among patients, but very few data are known about the genetic variation among Iranian populations.

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