Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome | Zendy

Moushira Zaki | Zendy; Shreen El-Shaer | Zendy; Sahar Rady | Zendy; Manal Abd El-Salam | Zendy; Ragaa Abdel-Salam | Zendy; Ibrahim Abdelfattah Alkashlan | Zendy; Mohamed Saber | Zendy; Sanaa Abdalaziz Mohamed | Zendy; Mohamed Hassaan | Zendy; Eman Rabie | Zendy; Khalda Amr | Zendy

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Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome

Author(s) -

Moushira Zaki,

Shreen El-Shaer,

Sahar Rady,

Manal Abd El-Salam,

Ragaa Abdel-Salam,

Ibrahim Abdelfattah Alkashlan,

Mohamed Saber,

Sanaa Abdalaziz Mohamed,

Mohamed Hassaan,

Eman Rabie,

Khalda Amr

Publication year - 2019

Publication title -

open access macedonian journal of medical sciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.288

H-Index - 17

ISSN - 1857-9655

DOI - 10.3889/oamjms.2019.700

Subject(s) - nephrotic syndrome , medicine , genotype , gastroenterology , allele , allele frequency , polymorphism (computer science) , etiology , gene , genetics , biology

Mutations in the NPHS2 genes are the main aetiology of early-onset and familial steroid-resistant nephrotic syndrome (SRNS). The pathogenic NPHS2 mutation together with the p.R229Q variant has been less described among Egyptian children.

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