Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes

Ang Li,Er-Zhi Gao,Ying-Xia Cui,Jian-Hong Liu,Xing Lv,Xiu-Xiu Wei,Xia Xy,Chun-lin Gao,Feng-Xia Liu,Zheng-Kun Xia,Asan,Zhihong Liu,Xiao-Jun Li

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes

2018

Ang Li
Er-Zhi Gao
Ying-Xia Cui
Jian-Hong Liu
Xing Lv
Xiu-Xiu Wei
Xia Xy
Chun-lin Gao
Feng-Xia Liu
Zheng-Kun Xia
Asan
Zhihong Liu
Xiao-Jun Li

Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS) are kidney diseases that differ in clinical diagnosis, treatment, an

Keywords:

Biology
Genetics
Basement membrane
Alport syndrome
Cancer research
Focal segmental glomerulosclerosis
Nephropathy
Dominance (genetics)
Kidney disease
Phenotype
Kidney
Glomerular basement membrane
Pathology

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