Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases

被引：0

作者：

Kesha Rana

Stephen Tonna

Yan Yan Wang

Lydia Sin

Tina Lin

Elizabeth Shaw

Ishanee Mookerjee

Judy Savige

机构：

[1] University of Melbourne,Department of Medicine (AH/NH), The Northern Hospital

来源：

Pediatric Nephrology | 2007年 / 22卷

关键词：

Alport syndrome; Thin basement membrane nephropathy; Type IV collagen; Inherited disease; Glomerular basement membrane;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Both thin basement membrane nephropathy (TBMN) and autosomal recessive Alport syndrome result from mutations in the COL4A3 and COL4A4 genes, and this study documents further mutations and polymorphisms in these genes.

引用

页码：652 / 657

页数：5

共 50 条

[1] Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases
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[J]. PEDIATRIC NEPHROLOGY, 2007, 22 (05) : 652 - 657
[2] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus
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[3] Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome
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[4] Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
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[5] Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
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[6] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria
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Morales, E
Camacho, JA
Lens, X
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[J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (05): : 1248 - 1254
[7] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria
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[8] COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome
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[9] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.
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