Results 111 to 120 of about 2,525,206 (182)

MyGene2 automated match report: COL4A5

, 2016
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect ...
The MyGene2 team (3237057)
core   +1 more source

Clinical and Genetic Mapping of X Chromosome in the X-linked Dominant Inherited Alport′s syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2008
To study the hereditary mode and clinical characteristics and detect mutations of gene COL4A5 encoding type IV collagen a5 chain among family members of an X-linked dominant inherited Alport′s syndrome (AS) family of China, we studied all of 38 ...
Dai Yong, Huang Yuanshuai, He Xiaolei, Wang Shayan, Huang Ruifang, Tang Min, Hu Chenxiao   +6 more
doaj  

Combination of a Novel Genetic Variant in CFB Gene and a Pathogenic Variant in COL4A5 Gene in a Sibling Renal Disease: A Case Report. [PDF]

Front Genet, 2021
Wang FM, Yang Y, Zhang XL, Wang YL, Tu Y, Liu BC, Wang B.   +6 more
europepmc   +1 more source

Mouse model of X-linked Alport syndrome with K229X mutation in the COL4A5 gene. [PDF]

Sci Rep
Zhang R, Bai PJ, Jiang W, Liu X, Zhang S, Wang Z, Shao L.   +6 more
europepmc   +1 more source

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing

, 2010
To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldApproximately 85% of patients with Alport syndrome (hereditary nephritis) have been estimated to have mutations in the X chromosomal COL4A5 ...
Atkin, C, Hertz, J M, Tumelius, T, Gregory, M, Styrkarsdottir, U, Tryggvason, K, Neumann, H, Springate, J, Zhou, J, Heiskari, N, Martin, P, Leinonen, A, Barker, D, Shows, T, Pettersson, E   +14 more
core  

Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells. [PDF]

Eur J Hum Genet
Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM.   +16 more
europepmc   +1 more source

Case Report: Early diagnosis of X-linked Alport syndrome in a pediatric patient and literature review. [PDF]

Front Pediatr
Gong Y, Guo H, Yang Z.
europepmc   +1 more source

Analysis in the COL4A5 gene in Alport syndrome

, 1995
openaire   +1 more source

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome. [PDF]

Biomed Rep, 2020
Zhao X, Shang X, Chen C, Liu L, Wang C, Zhao G, Zhang J, Kong X.   +7 more
europepmc   +1 more source

Kidney Transcriptome Sequencing Improves Molecular Diagnosis and Reveals Splicing Complexity Across the Alport Spectrum. [PDF]

Kidney Int Rep
Pleško J, Kert Š, Petrin S, Borštnar Š, Haler ŽV, Meglič A, Piko N, Matjašič A, Kojc N, Zupan A.   +9 more
europepmc   +1 more source