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Genetic variation of Chinese pediatric patients with X-linked Alport syndrome (XLAS)
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创建时间：
2020-08-19
相关数据集
Table_2_A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene.xlsx
Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the COL4A5 gene. Many
NIAID Data Ecosystem30
Data_Sheet_1_X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.docx
Objectives: X-linked Alport syndrome (XLAS) females are at risk of developing proteinuria and chronic kidney damage (CKD). The aim of this study is to evaluate the genotype-phenotype correlation in th
NIAID Data Ecosystem20
Additional file 4 of Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes
Additional file 4: S3. Variant spectrum and interpretation.
Figshare2020-11-11 更新00
A novel pathogenic COL4A5 variant in a family with multiple patients with X-linked Alport syndrome. Homo sapiens
We investigated a family with two affected brothers who were diagnosed with end-stage renal disease in the 2nd and 3rd decade of life without any obvious underlying cause. Whole-exome sequencing of ef
NIAID Data Ecosystem20
Data_Sheet_1_Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.PDF
Alport syndrome-diffuse leiomyomatosis is a rare type of X-linked Alport syndrome resulting from contiguous deletions of 5′ exons of COL4A5 and COL4A6. Studies have suggested that the occurrence of di
NIAID Data Ecosystem10
