Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome | Zendy

X. Pan | Zendy; Jun Yan | Zendy; Hong Ren | Zendy; Weixia Zhang | Zendy; Hongpeng Shi | Zendy; H. Yu | Zendy; C. Wang | Zendy; Hao Chen | Zendy; X. Chen | Zendy; Nan Chen | Zendy

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Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome

Author(s) -

X. Pan,

Jun Yan,

Hong Ren,

Weixia Zhang,

Hongpeng Shi,

H. Yu,

C. Wang,

Hao Chen,

X. Chen,

Nan Chen

Publication year - 2004

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfh099

Subject(s) - alport syndrome , exon , missense mutation , medicine , genetics , gene , mutation , microbiology and biotechnology , intron , glomerulonephritis , biology , kidney

Mutations in the COL4A5 gene, encoding the alpha 5 chain of type IV collagen, are responsible for X-linked Alport's syndrome (XLAS), a progressive nephropathy characterized by glomerular basement membrane abnormalities and usually associated with progressive hearing loss and ocular lesions.

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